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Anthony Monaco

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Dianne F Newbury; Alessandra Renieri; Elham Sadighi Akha; Jenny C Taylor; Roberto Canitano; Simon E Fisher; Kay D Macdermot; Francesca Mari; Anthony P Monaco; Samantha J L Knight
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Claire S Leblond; Marion Leboyer; Nathalie Lemière; Elena Maestrini; Luigi Mazzone; Jonas Melke; Oriane Mercati; Fiorella Minopoli; Anthony P Monaco; Marie-Christine Mouren; Gudrun Maria Nygren; Barbara Oliveira; Guiomar Oliveira; Dalila Pinto; Martin Poot; Fritz Poustka; Christian Proepper; Maria Rastam; Beatrice Regnault; Liliana Ruta; Stephen W Scherer; Ana F Sequeira; David Skuse; Roberto Toro; Raija Vanhala; Astrid Vicente; Regina Waltes; Diana Zelenika; Pauline Chaste; Andreas Chiocchetti; David A Collier; Sarah Curran; Marc Delepine; Richard Delorme; Françoise Devillard; Eftichia Duketis; Elodie Ey; Fabien Fauchereau; Christine M Freitag; Christopher Gillberg; I Carina Gillberg; Vincent Guinchat; Jutta Heinrich; Richard Holt; Guillaume Huguet; Irma Järvelä; Katri Kantojärvi; Sabine M Klauck; Marina Konyukh; Marnie Kopp; Mark Lathrop; Henrik Anckarsäter; Brigitte Assouline; Elena Bacchelli; Agatino Battaglia; Catalina Betancur; Tobias M Boeckers; Patrick Bolton; Dominique Bonneau; Thomas Bourgeron
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Thomas Scerri; John Stein; Joel B Talcott; Andrew J O Whitehouse; Craig E Pennell; Myriam Peyrard-Janvid; Susan Ring; Qi W Ang; Fahimeh Darki; Juha Kere; Torkel Klingberg; Hans Matsson; Anthony P Monaco; Andrew P Morris; Dianne F Newbury; Silvia Paracchini
The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure.

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All Publications

2013: Dianne F Newbury; Alessandra Renieri; Elham Sadighi Akha; Jenny C Taylor; Roberto Canitano; Simon E Fisher; Kay D Macdermot; Francesca Mari; Anthony P Monaco; Samantha J L Knight
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
European journal of human genetics : EJHG 2013;21(4):361-5.
2012: Claire S Leblond; Marion Leboyer; Nathalie Lemière; Elena Maestrini; Luigi Mazzone; Jonas Melke; Oriane Mercati; Fiorella Minopoli; Anthony P Monaco; Marie-Christine Mouren; Gudrun Maria Nygren; Barbara Oliveira; Guiomar Oliveira; Dalila Pinto; Martin Poot; Fritz Poustka; Christian Proepper; Maria Rastam; Beatrice Regnault; Liliana Ruta; Stephen W Scherer; Ana F Sequeira; David Skuse; Roberto Toro; Raija Vanhala; Astrid Vicente; Regina Waltes; Diana Zelenika; Pauline Chaste; Andreas Chiocchetti; David A Collier; Sarah Curran; Marc Delepine; Richard Delorme; Françoise Devillard; Eftichia Duketis; Elodie Ey; Fabien Fauchereau; Christine M Freitag; Christopher Gillberg; I Carina Gillberg; Vincent Guinchat; Jutta Heinrich; Richard Holt; Guillaume Huguet; Irma Järvelä; Katri Kantojärvi; Sabine M Klauck; Marina Konyukh; Marnie Kopp; Mark Lathrop; Henrik Anckarsäter; Brigitte Assouline; Elena Bacchelli; Agatino Battaglia; Catalina Betancur; Tobias M Boeckers; Patrick Bolton; Dominique Bonneau; Thomas Bourgeron
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
PLoS genetics 2012;8(2):e1002521.
2012: Thomas Scerri; John Stein; Joel B Talcott; Andrew J O Whitehouse; Craig E Pennell; Myriam Peyrard-Janvid; Susan Ring; Qi W Ang; Fahimeh Darki; Juha Kere; Torkel Klingberg; Hans Matsson; Anthony P Monaco; Andrew P Morris; Dianne F Newbury; Silvia Paracchini
The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure.
PloS one 2012;7(11):e50321.
2011: Antonio Velayos-Baeza; Benedikt Bader; Edmund M R Critchley; Adrian Danek; Elke Holinski-Feder; Anthony P Monaco; Birgit Neitzel; Ruth H Walker
Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.
Archives of neurology 2011;68(10):1330-3.
2011: Richard Holt; Anthony P Monaco
Links between genetics and pathophysiology in the autism spectrum disorders.
EMBO molecular medicine 2011;3(8):438-50.
2011: Thomas Scerri; Dorothy V M Bishop; Lyn-Louise Buckingham; Laura L Miller; Anthony P Monaco; Andrew P Morris; Dianne F Newbury; Silvia Paracchini
DCDC2, KIAA0319 and CMIP are associated with reading-related traits.
Biological psychiatry 2011;70(3):237-45.
2011: Veronica J Vieland; Joachim Hallmayer; Yungui Huang; Hameed Khan; Anthony P Monaco; Alistair T Pagnamenta; Andrew D Paterson; Dalila Pinto; Stephen W Scherer; James S Sutcliffe; Peter Szatmari
Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.
Journal of neurodevelopmental disorders 2011;3(2):113-23.
2011: Alistair T Pagnamenta; Richard Holt; Mohammed Yusuf; Dalila Pinto; Kirsty Wing; Catalina Betancur; Stephen W Scherer; Emanuela V Volpi; Anthony P Monaco
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
Journal of neurodevelopmental disorders 2011;3(2):124-31.
2011: Pia Villanueva; Dianne F Newbury; Lilian Jara; Zulema De Barbieri; Ghazala Mirza; Hernán M Palomino; María Angélica Fernández; Jean-Baptiste Cazier; Anthony P Monaco; Hernán Palomino
Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population.
European journal of human genetics : EJHG 2011;19(6):687-95.
2011: Silvia Paracchini; Q W Ang; Fiona J Stanley; Anthony P Monaco; Craig E Pennell; Andrew J O Whitehouse
Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population.
Genes, brain, and behavior 2011;10(2):158-65.
2011: Thomas Scerri; William M Brandler; Silvia Paracchini; Andrew P Morris; Susan M Ring; Alexandra Richardson; Joel B Talcott; John Stein; Anthony P Monaco
PCSK6 is associated with handedness in individuals with dyslexia.
Human molecular genetics 2011;20(3):608-14.
2011: Dianne F Newbury; Silvia Paracchini; Thomas Scerri; L Winchester; L Addis; Alexandra Richardson; J Walter; John Stein; Joel B Talcott; Anthony P Monaco
Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.
Behavior genetics 2011;41(1):90-104.
2011: Alistair T Pagnamenta; Hameed Khan; Susan Walker; Dianne Gerrelli; Kirsty Wing; Maria Clara Bonaglia; Roberto Giorda; Tom Berney; Elisa Mani; Massimo Molteni; Dalila Pinto; Ann Le Couteur; Joachim Hallmayer; James S Sutcliffe; Peter Szatmari; Andrew D Paterson; Stephen W Scherer; Veronica J Vieland; Anthony P Monaco
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
Journal of medical genetics 2011;48(1):48-54.
2010: Antonio Velayos-Baeza; Clotilde Levecque; Kazuhiro Kobayashi; Zoe G Holloway; Anthony P Monaco
The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage.
The Journal of biological chemistry 2010;285(51):40148-62.
2010: Denise Horn; Johannes Kapeller; Núria Rivera-Brugués; Ute Moog; Bettina Lorenz-Depiereux; Sebastian Eck; Maja Hempel; Janine Wagenstaller; Alex Gawthrope; Anthony P Monaco; Michael Bonin; Olaf Riess; Eva Wohlleber; Thomas Illig; Connie R Bezzina; Andre Franke; Stephanie Spranger; Pablo Villavicencio-Lorini; Wenke Seifert; Jochen Rosenfeld; Eva Klopocki; Gudrun A Rappold; Tim M Strom
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
Human mutation 2010;31(11):E1851-60.
2010: Dianne F Newbury; Anthony P Monaco
Genetic advances in the study of speech and language disorders.
Neuron 2010;68(2):309-20.
2010: Richard Anney; Lambertus Klei; Dalila Pinto; Regina Regan; Judith Conroy; Tiago R Magalhaes; Catarina Correia; Brett S. Abrahams; Nuala Sykes; Alistair T Pagnamenta; Joana Almeida; Elena Bacchelli; Anthony J Bailey; Gillian Baird; Agatino Battaglia; Tom Berney; Nadia Bolshakova; Sven Bölte; Patrick F Bolton; Thomas Bourgeron; Sean Brennan; Jessica Brian; Andrew R Carson; Guillermo Casallo; Jillian Casey; Su H Chu; Lynne Cochrane; Christina Corsello; Emily L Crawford; Andrew Crossett; Geraldine Dawson; Maretha de Jonge; Richard Delorme; Irene Drmic; Eftichia Duketis; Frederico Oliveira Duque; Annette Estes; Penny Farrar; Bridget A Fernandez; Susan E Folstein; Eric Fombonne; Christine M Freitag; John Gilbert; Christopher Gillberg; Joseph T Glessner; Jeremy Goldberg; Jonathan Green; Stephen J Guter; Hakon Hakonarson; Elizabeth A Heron; Matthew Hill; Richard Holt; Jennifer L Howe; Gillian Hughes; Vanessa Hus; Roberta Igliozzi; Cecilia Kim; Sabine M Klauck; Alexander Kolevzon; Olena Korvatska; Vlad Kustanovich; Clara M Lajonchere; Janine A Lamb; Magdalena Laskawiec; Marion Leboyer; Ann Le Couteur; Bennett L Leventhal; Anath C Lionel; Xiao-Qing Liu; Catherine Lord; Linda Lotspeich; Sabata C Lund; Elena Maestrini; William Mahoney; Carine Mantoulan; Christian R Marshall; Helen McConachie; Christopher J McDougle; Jane McGrath; William M McMahon; Nadine M Melhem; Alison Merikangas; Ohsuke Migita; Nancy J Minshew; Ghazala K Mirza; Jeffrey Munson; Stanley F Nelson; Carolyn Noakes; Abdul Noor; Gudrun Maria Nygren; Guiomar Oliveira; Katerina Papanikolaou; Jeremy R Parr; Barbara Parrini; Tara Paton; Andrew Pickles; Joseph Piven; David J Posey; Annemarie Poustka; Fritz Poustka; APARNA PRASAD; Jiannis Ragoussis; Katy Renshaw; Jessica Rickaby; Wendy Roberts; Kathryn Roeder; Bernadette Roge; Michael L Rutter; Laura J Bierut; John P Rice; Jeff Salt; Katherine Sansom; Daisuke Sato; Ricardo Segurado; Lili Senman; Naisha Shah; Val C Sheffield; Latha Soorya; Inês Sousa; Vera Stoppioni; Christina Strawbridge; Raffaella Tancredi; Katherine Tansey; Bhooma Thiruvahindrapduram; Ann P Thompson; Susanne Thomson; Ana Tryfon; John Tsiantis; Herman Van Engeland; John B Vincent; Fred Volkmar; Simon Wallace; Kai Wang; Zhouzhi Wang; Thomas H Wassink; Kirsty Wing; Kerstin Wittemeyer; Shawn Wood; Brian L Yaspan; Danielle Zurawiecki; Lonnie Zwaigenbaum; Catalina Betancur; Joseph Buxbaum; Rita M Cantor; Edwin H Cook; Hilary Coon; Michael Cuccaro; Louise Gallagher; Daniel Geschwind; Michael Gill; Jonathan L Haines; Judith Miller; Anthony P Monaco; John I Nurnberger; Andrew D Paterson; Margaret Pericak-Vance; Gerard D Schellenberg; Stephen W Scherer; James S Sutcliffe; Peter Szatmari; Astrid M Vicente; Veronica J Vieland; Ellen M Wijsman; Bernie Devlin; Sean Ennis; Joachim Hallmayer
A genome-wide scan for common alleles affecting risk for autism.
Human molecular genetics 2010;19(20):4072-82.
2010: Abdul Noor; Annabel Whibley; Christian R Marshall; Peter J Gianakopoulos; Amelie Piton; Andrew R Carson; Marija Orlic-Milacic; Anath C Lionel; Daisuke Sato; Dalila Pinto; Irene Drmic; Carolyn Noakes; Lili Senman; Xiaoyun Zhang; Rong Mo; Julie Gauthier; Jennifer Crosbie; Alistair T Pagnamenta; Jeffrey Munson; Annette M Estes; Andreas Fiebig; Andre Franke; Stefan Schreiber; Alexandre Stewart; Robert Roberts; Ruth McPherson; Stephen J Guter; Edwin H Cook; Geraldine Dawson; Gerard D Schellenberg; Agatino Battaglia; Elena Maestrini; Linda Jeng; Terry Hutchison; Evica Rajcan-Separovic; Albert E Chudley; Suzanne M E Lewis; Xudong Liu; Jeanette J Holden; Bridget Fernandez; Lonnie Zwaigenbaum; Susan E Bryson; Wendy Roberts; Peter Szatmari; Louise Gallagher; Michael R Stratton; Jozef Gecz; Angela F Brady; Charles E Schwartz; Russell J Schachar; Anthony P Monaco; Guy A Rouleau; Chi-Chung Hui; F Lucy Raymond; Stephen W Scherer; John B Vincent
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Science translational medicine 2010;2(49):49ra68.
2010: Richard Holt; Gabrielle Barnby; Elena Maestrini; Elena Bacchelli; Denise Brocklebank; Inês Sousa; Erik J Mulder; Katri Kantojärvi; Irma Järvelä; Sabine M Klauck; Fritz Poustka; Anthony J Bailey; Anthony P Monaco
Linkage and candidate gene studies of autism spectrum disorders in European populations.
European journal of human genetics : EJHG 2010;18(9):1013-9.
2010: Elena Maestrini; Alistair T Pagnamenta; Janine A Lamb; Elena Bacchelli; N H Sykes; I Sousa; Claudio Toma; Gabrielle Barnby; H Butler; L Winchester; Thomas Scerri; F Minopoli; J Reichert; G Cai; Joseph Buxbaum; O Korvatska; Gerard D Schellenberg; Geraldine Dawson; A de Bildt; Ruud B Minderaa; E J Mulder; Andrew P Morris; Anthony J Bailey; Anthony P Monaco
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.
Molecular psychiatry 2010;15(9):954-68.
2010: Alistair T Pagnamenta; Elena Bacchelli; Maretha V de Jonge; Ghazala Mirza; Thomas Scerri; Fiorella Minopoli; Andreas Chiocchetti; Kerstin U Ludwig; Per Hoffmann; Silvia Paracchini; Ernesto Lowy; Denise H Harold; Jade A Chapman; Sabine M Klauck; Fritz Poustka; Renske H Houben; Wouter G Staal; Roel A Ophoff; Michael C O'Donovan; Julie Williams; Markus M Nöthen; Gerd Schulte-Körne; Panos Deloukas; Jiannis Ragoussis; Anthony J Bailey; Elena Maestrini; Anthony P Monaco
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.
Biological psychiatry 2010;68(4):320-8.
2010: L Addis; A D Friederici; S A Kotz; B Sabisch; J Barry; N Richter; A A Ludwig; R Rübsamen; F W Albert; S Pääbo; Dianne F Newbury; Anthony P Monaco
A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3.
Genes, brain, and behavior 2010;9(6):545-61.
2010: Dalila Pinto; Alistair T Pagnamenta; Lambertus Klei; Richard Anney; Daniele Merico; Regina Regan; Judith Conroy; Tiago R Magalhaes; Catarina Correia; Brett S. Abrahams; Joana Almeida; Elena Bacchelli; Gary D Bader; Anthony J Bailey; Gillian Baird; Agatino Battaglia; Tom Berney; Nadia Bolshakova; Sven Bölte; Patrick F Bolton; Thomas Bourgeron; Sean Brennan; Jessica Brian; Susan E Bryson; Andrew R Carson; Guillermo Casallo; Jillian Casey; Brian H Y Chung; Lynne Cochrane; Christina Corsello; Emily L Crawford; Andrew Crossett; Cheryl Cytrynbaum; Geraldine Dawson; Maretha de Jonge; Richard Delorme; Irene Drmic; Eftichia Duketis; Frederico Oliveira Duque; Annette Estes; Penny Farrar; Bridget A Fernandez; Susan E Folstein; Eric Fombonne; Christine M Freitag; John Gilbert; Christopher Gillberg; Joseph T Glessner; Jeremy Goldberg; Andrew Green; Jonathan Green; Stephen J Guter; Hakon Hakonarson; Elizabeth A Heron; Matthew Hill; Richard Holt; Jennifer L Howe; Gillian Hughes; Vanessa Hus; Roberta Igliozzi; Cecilia Kim; Sabine M Klauck; Alexander Kolevzon; Olena Korvatska; Vlad Kustanovich; Clara M Lajonchere; Janine A Lamb; Magdalena Laskawiec; Marion Leboyer; Ann Le Couteur; Bennett L Leventhal; Anath C Lionel; Xiao-Qing Liu; Catherine Lord; Linda Lotspeich; Sabata C Lund; Elena Maestrini; William Mahoney; Carine Mantoulan; Christian R Marshall; Helen McConachie; Christopher J McDougle; Jane McGrath; William M McMahon; Alison Merikangas; Ohsuke Migita; Nancy J Minshew; Ghazala K Mirza; Jeffrey Munson; Stanley F Nelson; Carolyn Noakes; Abdul Noor; Gudrun Maria Nygren; Guiomar Oliveira; Katerina Papanikolaou; Jeremy R Parr; Barbara Parrini; Tara Paton; Andrew Pickles; Marion Pilorge; Joseph Piven; Chris P Ponting; David J Posey; Annemarie Poustka; Fritz Poustka; APARNA PRASAD; Jiannis Ragoussis; Katy Renshaw; Jessica Rickaby; Wendy Roberts; Kathryn Roeder; Bernadette Roge; Michael L Rutter; Laura J Bierut; John P Rice; Jeff Salt; Katherine Sansom; Daisuke Sato; Ricardo Segurado; Ana F Sequeira; Lili Senman; Naisha Shah; Val C Sheffield; Latha Soorya; Inês Sousa; Olaf Stein; Nuala Sykes; Vera Stoppioni; Christina Strawbridge; Raffaella Tancredi; Katherine Tansey; Bhooma Thiruvahindrapduram; Ann P Thompson; Susanne Thomson; Ana Tryfon; John Tsiantis; Herman Van Engeland; John B Vincent; Fred Volkmar; Simon Wallace; Kai Wang; Zhouzhi Wang; Thomas H Wassink; Caleb Webber; Rosanna Weksberg; Kirsty Wing; Kerstin Wittemeyer; Shawn Wood; Jing Wu; Brian L Yaspan; Danielle Zurawiecki; Lonnie Zwaigenbaum; Joseph Buxbaum; Rita M Cantor; Edwin H Cook; Hilary Coon; Michael Cuccaro; Bernie Devlin; Sean Ennis; Louise Gallagher; Daniel Geschwind; Michael Gill; Jonathan L Haines; Joachim Hallmayer; Judith Miller; Anthony P Monaco; John I Nurnberger; Andrew D Paterson; Margaret Pericak-Vance; Gerard D Schellenberg; Peter Szatmari; Astrid M Vicente; Veronica J Vieland; Ellen M Wijsman; Stephen W Scherer; James S Sutcliffe; Catalina Betancur
Functional impact of global rare copy number variation in autism spectrum disorders.
Nature 2010;466(7304):368-72.
2010: Silvia Paracchini; Anthony P Monaco; Julian C Knight
An allele-specific gene expression assay to test the functional basis of genetic associations.
Journal of visualized experiments : JoVE 2010;(45):.
2010: Thomas Scerri; Silvia Paracchini; Andrew Morris; I Laurence MacPhie; Joel B Talcott; John Stein; Shelley D Smith; Bruce F Pennington; Richard K Olson; John C DeFries; Anthony P Monaco; Alex J Richardson
Identification of candidate genes for dyslexia susceptibility on chromosome 18.
PloS one 2010;5(10):e13712.
2010: Inês Sousa; Taane G Clark; Richard Holt; Alistair T Pagnamenta; Erik J Mulder; Ruud B Minderaa; Anthony J Bailey; Agatino Battaglia; Sabine M Klauck; Fritz Poustka; Anthony P Monaco
Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.
Molecular autism 2010;1(1):7.
2010: Dianne F Newbury; Simon E Fisher; Anthony P Monaco
Recent advances in the genetics of language impairment.
Genome medicine 2010;2(1):6.
2009: Nuala Sykes; Claudio Toma; Natalie Wilson; Emanuela V Volpi; Inês Sousa; Alistair T Pagnamenta; Raffaella Tancredi; Agatino Battaglia; Elena Maestrini; Anthony J Bailey; Anthony P Monaco
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
European journal of human genetics : EJHG 2009;17(10):1347-53.
2009: Sonja C Vernes; Kay D MacDermot; Anthony P Monaco; Simon E Fisher
Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia.
European journal of human genetics : EJHG 2009;17(10):1354-8.
2009: Ogo I Egbuna; Roger B Davis; Robyn Chudinski; Martha Pavlakis; Christin Rogers; Phani Molakatalla; Scott R Johnson; Seth Karp; Anthony P Monaco; Hongying Tang; Douglas W Hanto; Didier A Mandelbrot
Outcomes with conversion from calcineurin inhibitors to sirolimus after renal transplantation in the context of steroid withdrawal or steroid continuation.
Transplantation 2009;88(5):684-92.
2009: Dianne F Newbury; Laura Winchester; Laura Addis; Silvia Paracchini; Lyn-Louise Buckingham; Ann Clark; Wendy Cohen; Hilary Cowie; Katharina Dworzynski; Andrea Everitt; Ian M Goodyer; Elizabeth Hennessy; A David Kindley; Laura L Miller; Jamal Nasir; Anne O'Hare; Duncan Shaw; Zoe Simkin; Emily Simonoff; Vicky Slonims; Jocelynne Watson; Jiannis Ragoussis; Simon E Fisher; Jonathon R Seckl; Peter J Helms; Patrick F Bolton; Andrew Pickles; Gina Conti-Ramsden; Gillian Baird; Dorothy V M Bishop; Anthony P Monaco
CMIP and ATP2C2 modulate phonological short-term memory in language impairment.
American journal of human genetics 2009;85(2):264-72.
2009: Clotilde Levecque; Antonio Velayos-Baeza; Zoe Holloway; Anthony P Monaco
The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway.
American journal of physiology. Cell physiology 2009;297(1):C160-8.
2009: Inês Sousa; Taane G Clark; Claudio Toma; Kazuhiro Kobayashi; Maja Choma; Richard Holt; Nuala Sykes; Janine A Lamb; Anthony J Bailey; Agatino Battaglia; Elena Maestrini; Anthony P Monaco
MET and autism susceptibility: family and case-control studies.
European journal of human genetics : EJHG 2009;17(6):749-58.
2009: Alistair T Pagnamenta; Kirsty Wing; Elham Sadighi Akha; Samantha J L Knight; Sven Bölte; Gabriele Schmötzer; Eftichia Duketis; Fritz Poustka; Sabine M Klauck; Annemarie Poustka; Jiannis Ragoussis; Anthony J Bailey; Anthony P Monaco
A 15q13.3 microdeletion segregating with autism.
European journal of human genetics : EJHG 2009;17(5):687-92.
2009: Megan Y Dennis; Silvia Paracchini; Thomas Scerri; Ludmila Prokunina-Olsson; Julian C Knight; Richard Wade-Martins; Penny Coggill; Stephan Beck; Eric Green; Anthony P Monaco
A common variant associated with dyslexia reduces expression of the KIAA0319 gene.
PLoS genetics 2009;5(3):e1000436.
2009: Dianne F Newbury; Pamela C Warburton; Natalie Wilson; Elena Bacchelli; Simona Carone; Janine A Lamb; Elena Maestrini; Emanuela V Volpi; Shehla Mohammed; Gillian Baird; Anthony P Monaco
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.
American journal of medical genetics. Part A 2009;149A(4):588-97.
2009: Julian E Asher; Janine A Lamb; Denise Brocklebank; Jean-Baptiste Cazier; Elena Maestrini; Laura Addis; Mallika Sen; Simon Baron-Cohen; Anthony P Monaco
A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12.
American journal of human genetics 2009;84(2):279-85.
2008: Silvia Paracchini; Colin D Steer; Lyn-Louise Buckingham; Andrew P Morris; Susan Ring; Thomas Scerri; John Stein; Marcus E Pembrey; Jiannis Ragoussis; Jean Golding; Anthony P Monaco
Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population.
The American journal of psychiatry 2008;165(12):1576-84.
2008: Sonja C Vernes; Dianne F Newbury; Brett S. Abrahams; Laura Winchester; Jérôme Nicod; Matthias Groszer; Maricela Alarcón; Peter L Oliver; Kay E Davies; Daniel Geschwind; Anthony P Monaco; Simon E Fisher
A functional genetic link between distinct developmental language disorders.
The New England journal of medicine 2008;359(22):2337-45.
2008: Jane E Murphy; Ravinder S Vohra; Sarah Dunn; Zoe Holloway; Anthony P Monaco; Shervanthi Homer-Vanniasinkam; John H Walker; Sreenivasan Ponnambalam
Oxidised LDL internalisation by the LOX-1 scavenger receptor is dependent on a novel cytoplasmic motif and is regulated by dynamin-2.
Journal of cell science 2008;121(Pt 13):2136-47.
2008: Milena Falcaro; Andrew Pickles; D F Newbury; L Addis; E Banfield; Simon E Fisher; Anthony P Monaco; Zoë Simkin; Gina Conti-Ramsden
Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment.
Genes, brain, and behavior 2008;7(4):393-402.
2008: Antonio Velayos-Baeza; Claudio Toma; Silvia Paracchini; Anthony P Monaco
The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms.
Human molecular genetics 2008;17(6):859-71.
2008: L Winchester; Dianne F Newbury; Anthony P Monaco; Jiannis Ragoussis
Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays.
Cytogenetic and genome research 2008;123(1-4):322-32.
2007: Zoe Holloway; Robert Grabski; Tomasz Szul; Melanie L Styers; Julie A Coventry; Anthony P Monaco; Elizabeth Sztul
Activation of ADP-ribosylation factor regulates biogenesis of the ATP7A-containing trans-Golgi network compartment and its Cu-induced trafficking.
American journal of physiology. Cell physiology 2007;293(6):C1753-67.
2007: C Francks; S Maegawa; J Laurén; Brett S. Abrahams; A Velayos-Baeza; S E Medland; S Colella; M Groszer; E Z McAuley; T M Caffrey; T Timmusk; P Pruunsild; I Koppel; P A Lind; N Matsumoto-Itaba; J Nicod; L Xiong; R Joober; W Enard; B Krinsky; E Nanba; Alexandra Richardson; B P Riley; N G Martin; S M Strittmatter; Hans-Jürgen Möller; D Rujescu; D St Clair; P Muglia; J L Roos; Simon E Fisher; R Wade-Martins; G A Rouleau; John Stein; Maria Karayiorgou; Daniel Geschwind; Jiannis Ragoussis; K S Kendler; M S Airaksinen; M Oshimura; L E DeLisi; Anthony P Monaco
LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia.
Molecular psychiatry 2007;12(12):1129-39, 1057.
2007: José L Ruiz-Sandoval; Víctor García-Navarro; Erwin Chiquete; Carol Dobson-Stone; Anthony P Monaco; Lucía Elizabeth Alvarez-Palazuelos; Juan J Padilla-Martínez; Esperanza Barrera-Chairez; Erika I Rodríguez-Figueroa; Guillermo Pérez-García
Choreoacanthocytosis in a Mexican family.
Archives of neurology 2007;64(11):1661-4.
2007: Claudio Toma; M Rossi; I Sousa; Francesca Blasi; Elena Bacchelli; Reija Alen; Raija Vanhala; Anthony P Monaco; Irma Järvelä; Elena Maestrini
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations.
Molecular psychiatry 2007;12(11):977-9.
2007: Antonio Velayos-Baeza; Claudio Toma; Stephanie da Roza; Silvia Paracchini; Anthony P Monaco
Alternative splicing in the dyslexia-associated gene KIAA0319.
Mammalian genome : official journal of the International Mammalian Genome Society 2007;18(9):627-34.
2007: Anthony P Monaco
Multivariate linkage analysis of specific language impairment (SLI).
Annals of human genetics 2007;71(Pt 5):660-73.
2007: Peter Szatmari; Andrew D Paterson; Lonnie Zwaigenbaum; Wendy Roberts; Jessica Brian; Xiao-Qing Liu; John B Vincent; Jennifer L Skaug; Ann P Thompson; Lili Senman; Lars Feuk; Cheng Qian; Susan E Bryson; Marshall B Jones; Christian R Marshall; Stephen W Scherer; Veronica J Vieland; Christopher Bartlett; La Vonne Mangin; Rhinda Goedken; Alberto Segre; Margaret Pericak-Vance; Michael Cuccaro; John Gilbert; Harry H Wright; Ruth K Abramson; Catalina Betancur; Thomas Bourgeron; Christopher Gillberg; Marion Leboyer; Joseph Buxbaum; Kenneth L Davis; Eric Hollander; Jeremy Silverman; Joachim Hallmayer; Linda Lotspeich; James S Sutcliffe; Jonathan L Haines; Susan E Folstein; Joseph Piven; Thomas H Wassink; Val Sheffield; Daniel Geschwind; Maja Bucan; W Ted Brown; Rita M Cantor; John N Constantino; T Conrad Gilliam; Martha Herbert; Clara Lajonchere; David Ledbetter; Christa Lese Martin; Janet Miller; Stan Nelson; Carol A Samango-Sprouse; Sarah J Spence; Sate Matthew; Rudolph E Tanzi; Hilary Coon; Geraldine Dawson; Bernie Devlin; Annette Estes; Pamela Flodman; Lambertus Klei; William M McMahon; Nancy J Minshew; Jeffrey Munson; Elena Korvatska; Patricia M Rodier; Gerard D Schellenberg; Moyra Smith; M Anne Spence; Chris Stodgell; Ping Guo Tepper; Ellen M Wijsman; Chang-En Yu; Bernadette Rogé; Carine Mantoulan; Kerstin Wittemeyer; Annemarie Poustka; Bärbel Felder; Sabine M Klauck; Claudia Schuster; Fritz Poustka; Sven Bölte; Sabine Feineis-Matthews; Evelyn Herbrecht; Gabi Schmötzer; John Tsiantis; Katerina Papanikolaou; Elena Maestrini; Elena Bacchelli; Francesca Blasi; Simona Carone; Claudio Toma; Herman Van Engeland; Maretha de Jonge; Chantal Kemner; Frederieke Koop; Frederike Koop; Marjolein Langemeijer; Marjolijn Langemeijer; Channa Hijmans; Channa Hijimans; Wouter G Staal; Gillian Baird; Patrick Bolton; Michael L Rutter; Emma Weisblatt; Jonathan Green; Catherine Aldred; Julie-Anne Wilkinson; Andrew Pickles; Ann Le Couteur; Tom Berney; Helen McConachie; Anthony J Bailey; Kostas Francis; Gemma Honeyman; Aislinn Hutchinson; Jeremy R Parr; Simon Wallace; Anthony P Monaco; Gabrielle Barnby; Kazuhiro Kobayashi; Janine A Lamb; Ines Sousa; Nuala Sykes; Edwin H Cook; Stephen J Guter; Bennett L Leventhal; Jeff Salt; Catherine Lord; Christina Corsello; Vanessa Hus; Daniel E Weeks; Fred Volkmar; Maïté Tauber; Eric Fombonne; Andy Shih; Kacie J Meyer
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nature genetics 2007;39(3):319-28.
2007: Silvia Paracchini; Thomas Scerri; Anthony P Monaco
The genetic lexicon of dyslexia.
Annual review of genomics and human genetics 2007;8():57-79.
2006: Denise Harold; Silvia Paracchini; Thomas Scerri; M Dennis; Natalie Cope; Gary Hill; Valentina Moskvina; J Walter; Alexandra Richardson; Michael J Owen; John Stein; Eric Green; Michael C O'Donovan; Julie Williams; Anthony P Monaco
Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia.
Molecular psychiatry 2006;11(12):1085-91, 1061.
2006: Lorne Lonie; Daniel E Porter; Maria Fraser; Trevor Cole; Carol Wise; Laura Yates; Emma Wakeling; Ed Blair; Eva Morava; Anthony P Monaco; Jiannis Ragoussis
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.
Human mutation 2006;27(11):1160.
2006: Jeremy R Parr; Janine A Lamb; Anthony J Bailey; Anthony P Monaco
Response to paper by Molloy et al.: linkage on 21q and 7q in autism subset with regression.
Molecular psychiatry 2006;11(7):617-9; author reply 619.
2006: Silvia Paracchini; Ankur Thomas; Sandra Castro; Cecilia S L Lai; Murugan Paramasivam; Yu Wang; Brendan J Keating; Jennifer M Taylor; Douglas F Hacking; Thomas Scerri; Clyde Francks; Alexandra Richardson; Richard Wade-Martins; John Stein; Julian C Knight; Andrew J Copp; joe loturco; Anthony P Monaco
The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration.
Human molecular genetics 2006;15(10):1659-66.
2006: Gareth J Howell; Zoe Holloway; Christian Cobbold; Anthony P Monaco; Sreenivasan Ponnambalam
Cell biology of membrane trafficking in human disease.
International review of cytology 2006;252():1-69.
2006: Francesca Blasi; Elena Bacchelli; Simona Carone; Claudio Toma; Anthony P Monaco; Anthony J Bailey; Elena Maestrini
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.
European journal of human genetics : EJHG 2006;14(1):123-6.
2006: Matthew N Ogdie; Steven C Bakker; Simon E Fisher; Clyde Francks; May H Yang; Rita M Cantor; Sandra K Loo; Emma M van der Meulen; P Pearson; Jan K Buitelaar; Anthony P Monaco; Stanley F Nelson; Richard J Sinke; Susan L Smalley
Pooled genome-wide linkage data on 424 ADHD ASPs suggests genetic heterogeneity and a common risk locus at 5p13.
Molecular psychiatry 2006;11(1):5-8.
2005: Dianne F Newbury; Dorothy V M Bishop; Anthony P Monaco
Genetic influences on language impairment and phonological short-term memory.
Trends in cognitive sciences 2005;9(11):528-34.
2005: Javier Gayán; Erik G Willcutt; Simon E Fisher; Clyde Francks; Lon R Cardon; Richard K Olson; Bruce F Pennington; Shelley D Smith; Anthony P Monaco; John C DeFries
Bivariate linkage scan for reading disability and attention-deficit/hyperactivity disorder localizes pleiotropic loci.
Journal of child psychology and psychiatry, and allied disciplines 2005;46(10):1045-56.
2005: Carol Dobson-Stone; Antonio Velayos-Baeza; An Jansen; Frederick Andermann; François Dubeau; Francine Robert; Anne Summers; Anthony E Lang; Sylvain Chouinard; Adrian Danek; Eva Andermann; Anthony P Monaco
Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.
Neurogenetics 2005;6(3):151-8.
2005: Abdullah Al-Asmi; An C Jansen; AmanPreet Badhwar; François Dubeau; Donatella Tampieri; Chaim Shustik; Suha Mercho; Ghislaine Savard; Carol Dobson-Stone; Anthony P Monaco; Frederick Andermann; Eva Andermann
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.
Epilepsia 2005;46(8):1256-63.
2005: Kay D MacDermot; Elena Bonora; Nuala Sykes; Anne-Marie Coupe; Cecilia S L Lai; Sonja C Vernes; Faraneh Vargha-Khadem; Fiona McKenzie; Robert L Smith; Anthony P Monaco; Simon E Fisher
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.
American journal of human genetics 2005;76(6):1074-80.
2005: Gabrielle Barnby; Aaron Abbott; Nuala Sykes; Andrew Morris; Daniel E Weeks; Richard Mott; Janine Lamb; Anthony J Bailey; Anthony P Monaco
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.
American journal of human genetics 2005;76(6):950-66.
2005: Alexander Lossos; Carol Dobson-Stone; Anthony P Monaco; Dov Soffer; Ezra Rahamim; Joel P Newman; Saidi Mohiddin; Lameh Fananapazir; Israela Lerer; Eduard Linetsky; Avinoam Reches; Zohar Argov; Oded Abramsky; Natan Gadoth; Menachem Sadeh; John Moshe Gomori; Moshe Boher; Vardiella Meiner
Early clinical heterogeneity in choreoacanthocytosis.
Archives of neurology 2005;62(4):611-4.
2005: Janine A Lamb; Gabrielle Barnby; Elena Bonora; Nuala Sykes; Elena Bacchelli; Francesca Blasi; Elena Maestrini; John Broxholme; J Tzenova; D Weeks; Anthony J Bailey; Anthony P Monaco
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.
Journal of medical genetics 2005;42(2):132-7.
2005: Elena Bonora; Janine A Lamb; Gabrielle Barnby; Nuala Sykes; Thomas Moberly; Kim S Beyer; Sabine M Klauck; Firtz Poustka; Elena Bacchelli; Francesca Blasi; Elena Maestrini; Agatino Battaglia; Demetrios Haracopos; Lennart Pedersen; Torben Isager; Gunna Eriksen; Birgitte Viskum; Ester-Ulsted Sorensen; karen brondum-nielsen; Rodney Cotterill; Herman von Engeland; Maretha de Jonge; Chantal Kemner; Karlijn Steggehuis; Margret Scherpenisse; Michael Rutter; Patrick Bolton; Jeremy R Parr; Annemarie Poustka; Anthony J Bailey; Anthony P Monaco
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.
European journal of human genetics : EJHG 2005;13(2):198-207.
2004: Clyde Francks; Silvia Paracchini; Shelley D Smith; Alexandra Richardson; Thomas Scerri; Lon R Cardon; Angela J Marlow; I Laurence MacPhie; Janet Walter; Bruce F Pennington; Simon E Fisher; Richard K Olson; John C DeFries; John Stein; Anthony P Monaco
A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States.
American journal of human genetics 2004;75(6):1046-58.
2004: Thomas Scerri; Simon E Fisher; Clyde Francks; I Laurence MacPhie; Silvia Paracchini; Alexandra Richardson; John Stein; Anthony P Monaco
Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK.
Journal of medical genetics 2004;41(11):853-7.
2004: Antonio Velayos-Baeza; Andrea Vettori; Richard R Copley; Carol Dobson-Stone; Anthony P Monaco
Analysis of the human VPS13 gene family.
Genomics 2004;84(3):536-49.
2004: Daniel E Porter; Lorne Lonie; Maria Fraser; Carol Dobson-Stone; J R Porter; Anthony P Monaco; A H R W Simpson
Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study.
The Journal of bone and joint surgery. British volume 2004;86(7):1041-6.
2004: Carol Dobson-Stone; Antonio Velayos-Baeza; Lea A Filippone; Sarah Westbury; Alexander Storch; Torsten Erdmann; Stephen J Wroe; Klaus L Leenders; Anthony E Lang; Maria Teresa Dotti; Antonio Federico; Saidi Mohiddin; Lameh Fananapazir; Geoff Daniels; Adrian Danek; Anthony P Monaco
Chorein detection for the diagnosis of chorea-acanthocytosis.
Annals of neurology 2004;56(2):299-302.
2004: Sandra K Loo; Simon E Fisher; Clyde Francks; Matthew N Ogdie; I Laurence MacPhie; May Yang; James T McCracken; James J McGough; Stanley F Nelson; Anthony P Monaco; Susan L Smalley
Genome-wide scan of reading ability in affected sibling pairs with attention-deficit/hyperactivity disorder: unique and shared genetic effects.
Molecular psychiatry 2004;9(5):485-93.
2004: Christian Cobbold; Julie Coventry; Sreenivasan Ponnambalam; Anthony P Monaco
Actin and microtubule regulation of trans-Golgi network architecture, and copper-dependent protein transport to the cell surface.
Molecular membrane biology 2004;21(1):59-66.
2003: Clyde Francks; Lynn E DeLisi; Sarah H Shaw; Simon E Fisher; Alexandra Richardson; John Stein; Anthony P Monaco
Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11.
Human molecular genetics 2003;12(24):3225-30.
2003: Christian Cobbold; Anthony P Monaco; Asipu Sivaprasadarao; Sreenivasan Ponnambalam
Aberrant trafficking of transmembrane proteins in human disease.
Trends in cell biology 2003;13(12):639-47.
2003: Clyde Francks; Simon E Fisher; Angela J Marlow; I Laurence MacPhie; Kathleen E Taylor; Alexandra Richardson; John Stein; Anthony P Monaco
Familial and genetic effects on motor coordination, laterality, and reading-related cognition.
The American journal of psychiatry 2003;160(11):1970-7.
2003: Elena Bacchelli; Francesca Blasi; M Biondolillo; Janine A Lamb; Elena Bonora; Gabrielle Barnby; Jeremy R Parr; K S Beyer; Sabine M Klauck; Annemarie Poustka; Anthony J Bailey; Anthony P Monaco; Elena Maestrini
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.
Molecular psychiatry 2003;8(11):916-24.
2003: Cecilia S L Lai; Dianne Gerrelli; Anthony P Monaco; Simon E Fisher; Andrew J Copp
FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder.
Brain : a journal of neurology 2003;126(Pt 11):2455-62.
2003: Elena Bonora; K S Beyer; Janine A Lamb; Jeremy R Parr; Sabine M Klauck; A Benner; Marta Paolucci; A Abbott; Jiannis Ragoussis; Annemarie Poustka; Anthony J Bailey; Anthony P Monaco
Analysis of reelin as a candidate gene for autism.
Molecular psychiatry 2003;8(10):885-92.
2003: Stefano C Previtali; Barbara Zerega; Diane L Sherman; Peter J Brophy; Giorgia Dina; Rosalind H M King; Mustafa Salih; Laura Feltri; Angelo Quattrini; Roberto Ravazzolo; Lawrence Wrabetz; Anthony P Monaco; Alessandra Bolino
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Human molecular genetics 2003;12(14):1713-23.
2003: Christian Cobbold; Julie Coventry; Sreenivasan Ponnambalam; Anthony P Monaco
The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway.
Human molecular genetics 2003;12(13):1523-33.
2003: Elena G Bochukova; Andrew Jefferson; Michael J Francis; Anthony P Monaco
Genomic studies of gene expression: regulation of the Wilson disease gene.
Genomics 2003;81(6):531-42.
2003: Matthew N Ogdie; I Laurence MacPhie; Sonia L Minassian; May Yang; Simon E Fisher; Clyde Francks; Rita M Cantor; James T McCracken; James J McGough; Stanley F Nelson; Anthony P Monaco; Susan L Smalley
A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11.
American journal of human genetics 2003;72(5):1268-79.
2003: Saeed Bohlega; Adel Al-Jishi; Carol Dobson-Stone; Luca Rampoldi; Parthasarathi Saha; Hatem Murad; Abid Kareem; George Roberts; Anthony P Monaco
Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.
Movement disorders : official journal of the Movement Disorder Society 2003;18(4):403-7.
2003: Angela J Marlow; Simon E Fisher; Clyde Francks; I Laurence MacPhie; Stacey Cherny; Alexandra Richardson; Joel B Talcott; John Stein; Anthony P Monaco; Lon R Cardon
Use of multivariate linkage analysis for dissection of a complex cognitive trait.
American journal of human genetics 2003;72(3):561-70.
2003: Clyde Francks; Lynn E DeLisi; Simon E Fisher; Steve H Laval; Judith E Rue; John Stein; Anthony P Monaco
Confirmatory evidence for linkage of relative hand skill to 2p12-q11.
American journal of human genetics 2003;72(2):499-502.
2003: Gabrielle Barnby; Anthony P Monaco
Strategies for autism candidate gene analysis.
Novartis Foundation symposium 2003;251():48-63; discussion 63-9, 109-11, 281-97.
2003: Simon E Fisher; Cecilia S L Lai; Anthony P Monaco
Deciphering the genetic basis of speech and language disorders.
Annual review of neuroscience 2003;26():57-80.
2002: Clyde Francks; I Laurence MacPhie; Anthony P Monaco
The genetic basis of dyslexia.
Lancet neurology 2002;1(8):483-90.
2002: Dianne F Newbury; Anthony P Monaco
Talking genes - the molecular basis of language impairment.
Biologist (London, England) 2002;49(6):255-60.
2002: Dianne F Newbury; Anthony P Monaco
Molecular genetics of speech and language disorders.
Current opinion in pediatrics 2002;14(6):696-701.
2002: C Dobson-Stone; Adrian Danek; L Rampoldi; R J Hardie; R M Chalmers; Nicholas W Wood; S Bohlega; M T Dotti; A Federico; M Shizuka; M Tanaka; M Watanabe; Y Ikeda; M Brin; L G Goldfarb; B I Karp; Saidi Mohiddin; L Fananapazir; A Storch; A E Fryer; P Maddison; I Sibon; P C Trevisol-Bittencourt; Carlos Singer; I R Caballero; J O Aasly; K Schmierer; R Dengler; L-P Hiersemenzel; M Zeviani; V Meiner; A Lossos; S Johnson; F C Mercado; Giuseppe Sorrentino; N Dupré; G A Rouleau; Jens Volkmann; J Arpa; A Lees; G Geraud; S Chouinard; A Németh; Anthony P Monaco
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
European journal of human genetics : EJHG 2002;10(11):773-81.
2002: Christian Cobbold; Sreenivasan Ponnambalam; Michael J Francis; Anthony P Monaco
Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase.
Human molecular genetics 2002;11(23):2855-66.
2002: Susan L Smalley; Vlad Kustanovich; Sonia L Minassian; Jennifer L Stone; Matthew N Ogdie; James J McGough; James T McCracken; I Laurence MacPhie; Clyde Francks; Simon E Fisher; Rita M Cantor; Anthony P Monaco; Stanley F Nelson
Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism.
American journal of human genetics 2002;71(4):959-63.
2002: Wolfgang Enard; Molly Przeworski; Simon E Fisher; Cecilia S L Lai; Victor Wiebe; Takashi Kitano; Anthony P Monaco; Svante Pääbo
Molecular evolution of FOXP2, a gene involved in speech and language.
Nature 2002;418(6900):869-72.
2002: Luca Rampoldi; Adrian Danek; Anthony P Monaco
Clinical features and molecular bases of neuroacanthocytosis.
Journal of molecular medicine (Berlin, Germany) 2002;80(8):475-91.
2002: Simon E Fisher; Clyde Francks; James T McCracken; James J McGough; Angela J Marlow; I Laurence MacPhie; Dianne F Newbury; Lori R Crawford; Christina G S Palmer; J Arthur Woodward; Melissa Del'Homme; Dennis P Cantwell; Stanley F Nelson; Anthony P Monaco; Susan L Smalley
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder.
American journal of human genetics 2002;70(5):1183-96.
2002: Dianne F Newbury; Elena Bonora; Janine A Lamb; Simon E Fisher; Cecilia S L Lai; Gillian Baird; L Jannoun; Vicky Slonims; Carol M Stott; Melanie J Merricks; Patrick Bolton; Anthony J Bailey; Anthony P Monaco
FOXP2 is not a major susceptibility gene for autism or specific language impairment.
American journal of human genetics 2002;70(5):1318-27.
2002: Clyde Francks; Simon E Fisher; Richard K Olson; Bruce F Pennington; Shelley D Smith; John C DeFries; Anthony P Monaco
Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1.
Psychiatric genetics 2002;12(1):35-41.
2002: Clyde Francks; Simon E Fisher; I Laurence MacPhie; Alexandra Richardson; Angela J Marlow; John Stein; Anthony P Monaco
A genomewide linkage screen for relative hand skill in sibling pairs.
American journal of human genetics 2002;70(3):800-5.
2002: Carol Dobson-Stone; Rebecca J Fairclough; Eimear Dunne; Joanna Brown; Manel Dissanayake; Colin S Munro; Tom Strachan; Susan Burge; Ralf Sudbrak; Anthony P Monaco; Alain Hovnanian
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.
The Journal of investigative dermatology 2002;118(2):338-43.
2002: Alessandra Bolino; Valeria Marigo; Francesca Ferrera; Julie Loader; Leila Romio; Antonio Leoni; Marco Di Duca; Roberta Cinti; Chiara Cecchi; M Laura Feltri; Lawrence Wrabetz; Roberto Ravazzolo; Anthony P Monaco
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.
Gene 2002;283(1-2):17-26.
2002: Janine A Lamb; Jeremy R Parr; Anthony J Bailey; Anthony P Monaco
Autism: in search of susceptibility genes.
Neuromolecular medicine 2002;2(1):11-28.
2002: Elena Bonora; Elena Bacchelli; ER Levy; Francesca Blasi; Angela J Marlow; Anthony P Monaco; Elena Maestrini
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region.
Molecular psychiatry 2002;7(3):289-301.
2002: Simon E Fisher; Clyde Francks; Angela J Marlow; I Laurence MacPhie; Dianne F Newbury; Lon R Cardon; Yumiko Ishikawa-Brush; Alexandra Richardson; Joel B Talcott; Javier Gayán; Richard K Olson; Bruce F Pennington; Shelley D Smith; John C DeFries; John Stein; Anthony P Monaco
Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia.
Nature genetics 2002;30(1):86-91.
2001: Anthony P Monaco; A J Bailey
Autism. The search for susceptibility genes.
Lancet 2001;358 Suppl():S3.
2001: Adrian Danek; JP Rubio; Luca Rampoldi; M Ho; Carol Dobson-Stone; François Tison; W A Symmans; Matthias Oechsner; W Kalckreuth; J M Watt; A J Corbett; H H Hamdalla; A G Marshall; I Sutton; Maria Teresa Dotti; Alessandro Malandrini; Ruth H Walker; G Daniels; Anthony P Monaco
McLeod neuroacanthocytosis: genotype and phenotype.
Annals of neurology 2001;50(6):755-64.
2001: Cecilia S L Lai; Simon E Fisher; J A Hurst; Faraneh Vargha-Khadem; Anthony P Monaco
A forkhead-domain gene is mutated in a severe speech and language disorder.
Nature 2001;413(6855):519-23.
2001: Adrian Danek; François Tison; J Rubio; Matthias Oechsner; W Kalckreuth; Anthony P Monaco
The chorea of McLeod syndrome.
Movement disorders : official journal of the Movement Disorder Society 2001;16(5):882-9.
2001: Luca Rampoldi; Carol Dobson-Stone; JP Rubio; Adrian Danek; R M Chalmers; Nicholas W Wood; C Verellen; X Ferrer; Alessandro Malandrini; G M Fabrizi; R Brown; Jeffery Vance; Margaret Pericak-Vance; G Rudolf; S Carrè; E Alonso; M Manfredi; Andrea H Németh; Anthony P Monaco
A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
Nature genetics 2001;28(2):119-20.
2001: Anthony P Monaco; Z Larin
Generating subclones from large-insert genomic clones.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2001;Chapter 5():Unit 5.11.
2001: Angela J Marlow; Simon E Fisher; Alexandra Richardson; Clyde Francks; Joel B Talcott; Anthony P Monaco; John Stein; Lon R Cardon
Investigation of quantitative measures related to reading disability in a large sample of sib-pairs from the UK.
Behavior genetics 2001;31(2):219-30.
2001: Alessandra Bolino; Lorne Lonie; M Zimmer; C F Boerkoel; H Takashima; Anthony P Monaco; J R Lupski
Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
Neurogenetics 2001;3(2):107-9.
2001: Roberto Horacio Caraballo; S Pavek; Arnaud Lemainque; M Gastaldi; Bernard Echenne; J Motte; Pierre Genton; Ricardo Oscar Cersósimo; Véronique Humbertclaude; Natalio Fejerman; Anthony P Monaco; Mark Lathrop; J Rochette; Pierre Szepetowski
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.
American journal of human genetics 2001;68(3):788-94.
2000: Maria Teresa Dotti; Carla Battisti; Alessandro Malandrini; Antonio Federico; JP Rubio; G Circiarello; Anthony P Monaco
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
Movement disorders : official journal of the Movement Disorder Society 2000;15(6):1282-4.
2000: E Maestrini; A Paul; Anthony P Monaco; A Bailey
Identifying autism susceptibility genes.
Neuron 2000;28(1):19-24.
2000: Cecilia S L Lai; Simon E Fisher; J A Hurst; ER Levy; S Hodgson; M Fox; Steve Jeremiah; Sue Povey; D C Jamison; Eric Green; Faraneh Vargha-Khadem; Anthony P Monaco
The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder.
American journal of human genetics 2000;67(2):357-68.
2000: Clyde Francks; Simon E Fisher; Angela J Marlow; Alexandra Richardson; John Stein; Anthony P Monaco
A sibling-pair based approach for mapping genetic loci that influence quantitative measures of reading disability.
Prostaglandins, leukotrienes, and essential fatty acids 2000;63(1-2):27-31.
2000: Alessandra Bolino; Maria Muglia; Francesca Luisa Conforti; Eric LeGuern; Mustafa Salih; Domna-Maria Georgiou; Kyproula Christodoulou; I Hausmanowa-Petrusewicz; Paola Mandich; Angelo Schenone; A Gambardella; Francesco Bono; A Quattrone; Marcella Devoto; Anthony P Monaco
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Nature genetics 2000;25(1):17-9.
2000: Ralf Sudbrak; J Brown; Carol Dobson-Stone; S Carter; J Ramser; J White; E Healy; M Dissanayake; M Larrègue; M Perrussel; Hans Lehrach; Colin S Munro; Tom Strachan; Susan Burge; Alain Hovnanian; Anthony P Monaco
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.
Human molecular genetics 2000;9(7):1131-40.
2000: Janine A Lamb; J Moore; A Bailey; Anthony P Monaco
Autism: recent molecular genetic advances.
Human molecular genetics 2000;9(6):861-8.
2000: N McDonell; J Ramser; Fiona Francis; Marie-Claude Vinet; S Rider; Ralf Sudbrak; L Riesselman; Marie-Laure Yaspo; Richard Reinhardt; Anthony P Monaco; F Ross; Axel Kahn; L Kearney; Veronica Buckle; Jamel Chelly
Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.
Genomics 2000;64(3):221-9.
2000: Alessandra Bolino; ER Levy; Maria Muglia; Francesca Luisa Conforti; Eric LeGuern; Mustafa Salih; Domna-Maria Georgiou; Kyproula Christodoulou; I Hausmanowa-Petrusewicz; Paola Mandich; A Gambardella; A Quattrone; Marcella Devoto; Anthony P Monaco
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.
Genomics 2000;63(2):271-8.
2000: Carol Dobson-Stone; Roger D Cox; Lorne Lonie; Lorraine Southam; Maria Fraser; C Wise; F Bernier; S Hodgson; Daniel E Porter; A H R W Simpson; Anthony P Monaco
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.
European journal of human genetics : EJHG 2000;8(1):24-32.
1999: Elena Maestrini; Cecilia S L Lai; Angela J Marlow; N Matthews; S Wallace; A Bailey; Edwin H Cook; Daniel E Weeks; Anthony P Monaco
Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.
American journal of medical genetics 1999;88(5):492-6.
1999: Andrea H Németh; Dagmar Nolte; E Dunne; S Niemann; M Kostrzewa; U Peters; E Fraser; Elena G Bochukova; R Butler; J Brown; Roger D Cox; ER Levy; H H Ropers; Anthony P Monaco; Ulrich Müller
Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).
Genomics 1999;60(3):320-9.
1999: Ian David Goodyer; EE Jones; Anthony P Monaco; Michael J Francis
Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization.
Human molecular genetics 1999;8(8):1473-8.
1999: Elena Maestrini; Bernhard P Korge; J Ocaña-Sierra; E Calzolari; S Cambiaghi; P M Scudder; Alain Hovnanian; Anthony P Monaco; Colin S Munro
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
Human molecular genetics 1999;8(7):1237-43.
1999: Michael J Francis; EE Jones; ER Levy; R L Martin; Sreenivasan Ponnambalam; Anthony P Monaco
Identification of a di-leucine motif within the C terminus domain of the Menkes disease protein that mediates endocytosis from the plasma membrane.
Journal of cell science 1999;112 ( Pt 11)():1721-32.
1999: Pierre Szepetowski; Anthony P Monaco
Electronic identification and chromosomal assignment by radiation hybrid mapping of human expressed sequence tags corresponding to new potassium channel genes.
Neurogenetics 1999;2(2):115-20.
1999: JP Rubio; ER Levy; Carol Dobson-Stone; Anthony P Monaco
Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC).
Genomics 1999;57(1):84-93.
1999: Anavaj Sakuntabhai; Victor L Ruiz-Perez; S Carter; N Jacobsen; Susan Burge; S Monk; M Smith; Colin S Munro; M O'Donovan; N Craddock; Raju Kucherlapati; Jonathan L Rees; M Owen; G Mark Lathrop; Anthony P Monaco; Tom Strachan; Alain Hovnanian
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
Nature genetics 1999;21(3):271-7.
1999: Simon E Fisher; John Stein; Anthony P Monaco
A genome-wide search strategy for identifying quantitative trait loci involved in reading and spelling disability (developmental dyslexia).
European child & adolescent psychiatry 1999;8 Suppl 3():47-51.
1999: K J Park; K H Shin; Ja-Lok Ku; Tae-Joon Cho; S H Lee; I H Choi; C Phillipe; Anthony P Monaco; D E Porter; J G Park
Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.
Journal of human genetics 1999;44(4):230-4.
1999: Simon E Fisher; Angela J Marlow; J Lamb; Elena Maestrini; D F Williams; Alexandra Richardson; Daniel E Weeks; John Stein; Anthony P Monaco
A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia.
American journal of human genetics 1999;64(1):146-56.
1998: W L Lee; A Tay; H T Ong; L M Goh; Anthony P Monaco; P Szepetowski
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family.
Human genetics 1998;103(5):608-12.
1998: Pamela J Kaisaki; Peng Y Woon; Robert H Wallis; Anthony P Monaco; Mark Lathrop; Dominique Gauguier
Localization of tub and uncoupling proteins (Ucp) 2 and 3 to a region of rat chromosome 1 linked to glucose intolerance and adiposity in the Goto-Kakizaki (GK) type 2 diabetic rat.
Mammalian genome : official journal of the International Mammalian Genome Society 1998;9(11):910-2.
1998: Elena Maestrini; Angela J Marlow; Daniel E Weeks; Anthony P Monaco
Molecular genetic investigations of autism.
Journal of autism and developmental disorders 1998;28(5):427-37.
1998: Alain Hovnanian; Dominique Rebouillat; M G Mattei; ER Levy; Isabelle J Marié; Anthony P Monaco; Ara G Hovanessian
The human 2',5'-oligoadenylate synthetase locus is composed of three distinct genes clustered on chromosome 12q24.2 encoding the 100-, 69-, and 40-kDa forms.
Genomics 1998;52(3):267-77.
1998: Michael J Francis; EE Jones; ER Levy; Sreenivasan Ponnambalam; Jamel Chelly; Anthony P Monaco
A Golgi localization signal identified in the Menkes recombinant protein.
Human molecular genetics 1998;7(8):1245-52.
1998: Peng Y Woon; Kazutoyo Osoegawa; Pamela J Kaisaki; B Zhao; JJ Catanese; Dominique Gauguier; R Cox; ER Levy; G Mark Lathrop; Anthony P Monaco; Pieter J de Jong
Construction and characterization of a 10-fold genome equivalent rat P1-derived artificial chromosome library.
Genomics 1998;50(3):306-16.
1998: M Kostrzewa; B W Krings; M J Dixon; K Eppelt; A Köhler; D L Grady; Daniela Steinberger; N D Fairweather; Robert K Moyzis; Anthony P Monaco; Ulrich Müller
Integrated physical and transcript map of 5q31.3-qter.
European journal of human genetics : EJHG 1998;6(3):266-74.
1998: S Monk; Anavaj Sakuntabhai; S A Carter; S D Bryce; R Cox; L Harrington; E Levy; Victor L Ruiz-Perez; E Katsantoni; A Kodvawala; Colin S Munro; Susan Burge; M Larrègue; G Nagy; Jonathan L Rees; Mark Lathrop; Anthony P Monaco; Tom Strachan; Alain Hovnanian
Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.
American journal of human genetics 1998;62(4):890-903.
1998: Andy Greenfield; Laura Carrel; David J Pennisi; C Philippe; NA Quaderi; Pam Siggers; K Steiner; P P Tam; Anthony P Monaco; Huntington F Willard; Peter Koopman
The UTX gene escapes X inactivation in mice and humans.
Human molecular genetics 1998;7(4):737-42.
1998: Pierre Szepetowski; Anthony P Monaco
Recent progress in the genetics of human epilepsies.
Neurogenetics 1998;1(3):153-63.
1998: F Sloan-Béna; C Philippe; Bruno Leheup; F Wuilque; E R Levy; M Chéry; Philippe Jonveaux; Anthony P Monaco
Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.
Journal of medical genetics 1998;35(2):146-50.
1998: Simon E Fisher; Faraneh Vargha-Khadem; Kate E Watkins; Anthony P Monaco; Marcus E Pembrey
Localisation of a gene implicated in a severe speech and language disorder.
Nature genetics 1998;18(2):168-70.
1997: Christophe Lurquin; Charles De Smet; Francis Brasseur; F Muscatelli; V Martelange; Etienne De Plaen; R Brasseur; Anthony P Monaco; Thierry Boon
Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins.
Genomics 1997;46(3):397-408.
1997: B Renault; Alain Hovnanian; S Bryce; J J Chang; S Lau; Anavaj Sakuntabhai; S Monk; S Carter; C J Ross; J Pang; R Twells; S Chamberlain; Anthony P Monaco; Tom Strachan; Raju Kucherlapati
A sequence-ready physical map of a region of 12q24.1.
Genomics 1997;45(2):271-8.
1997: Zoia Larin; Anthony P Monaco; H Lehrach
Generation of large insert yeast artificial chromosome libraries.
Molecular biotechnology 1997;8(2):147-53.
1997: JP Rubio; Adrian Danek; C Stone; R Chalmers; N Wood; C Verellen; X Ferrer; Alessandro Malandrini; G M Fabrizi; M Manfredi; Jeffery Vance; Margaret Pericak-Vance; R Brown; G Rudolf; F Picard; E Alonso; M Brin; Andrea H Németh; Martin Farrall; Anthony P Monaco
Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
American journal of human genetics 1997;61(4):899-908.
1997: Pierre Szepetowski; J Rochette; P Berquin; C Piussan; G Mark Lathrop; Anthony P Monaco
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.
American journal of human genetics 1997;61(4):889-98.
1997: Jacqueline Boultwood; Carrie Fidler; P Soularue; Amanda J Strickson; M Kostrzewa; Rina J Jaju; F E Cotter; N Fairweather; Anthony P Monaco; U Müller; M Lovett; Ethylin Jabs; C Auffray; james wainscoat
Novel genes mapping to the critical region of the 5q- syndrome.
Genomics 1997;45(1):88-96.
1997: C Philippe; Daniel E Porter; ME Emerton; D E Wells; A H R W Simpson; Anthony P Monaco
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.
American journal of human genetics 1997;61(3):520-8.
1997: Yumiko Ishikawa-Brush; J F Powell; Patrick Bolton; A P Miller; F Francis; Huntington F Willard; H Lehrach; Anthony P Monaco
Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene.
Human molecular genetics 1997;6(8):1241-50.
1997: Vladimír Zajac; T Kirchhoff; E R Levy; S W Horsley; A Miller; E Steichen-Gersdorf; Anthony P Monaco
Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma.
European journal of human genetics : EJHG 1997;5(2):61-8.
1997: I Y Millwood; Marie-Thérèse Bihoreau; Dominique Gauguier; G Hyne; ER Levy; R Kreutz; G Mark Lathrop; Anthony P Monaco
A gene-based genetic linkage and comparative map of the rat X chromosome.
Genomics 1997;40(2):253-61.
1997: José E Mejía; Anthony P Monaco
Retrofitting vectors for Escherichia coli-based artificial chromosomes (PACs and BACs) with markers for transfection studies.
Genome research 1997;7(2):179-86.
1996: Geoff L Daniels; F Weinauer; C Stone; M Ho; Carole Green; H Jahn-Jochem; R Offner; Anthony P Monaco
A combination of the effects of rare genotypes at the XK and KEL blood group loci results in absence of Kell system antigens from the red blood cells.
Blood 1996;88(10):4045-50.
1996: Anthony P Monaco
Human genetics: dissecting Williams syndrome.
Current biology : CB 1996;6(11):1396-8.
1996: Hugues Roest Crollius; Mark T Ross; A Grigoriev; C J Knights; E Holloway; J Misfud; K Li; M Playford; S G Gregory; Sean Humphray; A J Coffey; Chee Gee See; S Marsh; Radost Vatcheva; J Kumlien; T Labella; V Lam; K H Rak; K Todd; R Mott; D Graeser; G Rappold; G Zehetner; A Poustka; D R Bentley; Anthony P Monaco; Hans Lehrach
An integrated YAC map of the human X chromosome.
Genome research 1996;6(10):943-55.
1996: A P Walker; F Muscatelli; A N Stafford; J Chelly; N Dahl; H K Blomquist; J Delanghe; P J Willems; B Steinmann; Anthony P Monaco
Mutations and phenotype in isolated glycerol kinase deficiency.
American journal of human genetics 1996;58(6):1205-11.
1996: Elena Maestrini; Anthony P Monaco; J A McGrath; A Ishida-Yamamoto; C Camisa; Alain Hovnanian; Daniel E Weeks; Mark Lathrop; Jouni Uitto; A M Christiano
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.
Nature genetics 1996;13(1):70-7.
1996: M F Ho; R M Chalmers; Mary B Davis; AE Harding; Anthony P Monaco
A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis.
Annals of neurology 1996;39(5):672-5.
1996: M Kostrzewa; A Köhler; K Eppelt; L Hellam; N D Fairweather; ER Levy; Anthony P Monaco; U Müller
Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33.
European journal of human genetics : EJHG 1996;4(4):199-204.
1996: Jiannis Ragoussis; Anthony P Monaco
Covering YAC-cloned DNA with phages and cosmids.
Methods in molecular biology (Clifton, N.J.) 1996;54():157-66.
1996: Zoia Larin; Anthony P Monaco; Hans Lehrach
Generation of large insert YAC libraries.
Methods in molecular biology (Clifton, N.J.) 1996;54():1-11.
1995: Simon E Fisher; E Hatchwell; A Chand; N Ockenden; Anthony P Monaco; IW Craig
Construction of two YAC contigs in human Xp11.23-p11.22, one encompassing the loci OATL1, GATA, TFE3, and SYP, the other linking DXS255 to DXS146.
Genomics 1995;29(2):496-502.
1995: I Y Millwood; Derek J Blake; Dominique Gauguier; Anthony P Monaco
Two polymorphic dinucleotide repeats in the rat dystrophin gene, including the conserved 3' UTR repeat.
Mammalian genome : official journal of the International Mammalian Genome Society 1995;6(9):668-9.
1995: G Haberhausen; I Schmitt; A Köhler; U Peters; S Rider; J Chelly; Joseph D Terwilliger; Anthony P Monaco; U Müller
Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.
American journal of human genetics 1995;57(3):644-50.
1995: HJ Blair; M Ho; Anthony P Monaco; Simon E Fisher; IW Craig; Y Boyd
High-resolution comparative mapping of the proximal region of the mouse X chromosome.
Genomics 1995;28(2):305-10.
1995: C Philippe; C Arnould; F Sloan; Hans van Bokhoven; Saskia D van der Velde-Visser; M Chery; Hans-Hilger Ropers; S Gilgenkrantz; Anthony P Monaco; Frans P M Cremers
A high-resolution interval map of the q21 region of the human X chromosome.
Genomics 1995;27(3):539-43.
1995: F Muscatelli; A P Walker; Etienne De Plaen; A N Stafford; Anthony P Monaco
Isolation and characterization of a MAGE gene family in the Xp21.3 region.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(11):4987-91.
1995: Zeynep Tümer; Burcak Vural; T Tønnesen; J Chelly; Anthony P Monaco; Nina Horn
Characterization of the exon structure of the Menkes disease gene using vectorette PCR.
Genomics 1995;26(3):437-42.
1995: A P Miller; Karen M Gustashaw; Daynna J Wolff; S H Rider; Anthony P Monaco; B Eble; David Schlessinger; J L Gorski; G J van Ommen; J Weissenbach
Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22.
Human molecular genetics 1995;4(4):731-9.
1995: Laurent Villard; Jozef Gecz; Laurence Colleaux; Anne-Marie Lossi; J Chelly; Y Ishikawa-Brush; Anthony P Monaco; M Fontes
Construction of a YAC contig spanning the Xq13.3 subband.
Genomics 1995;26(1):115-22.
1995: Yvette J M de Kok; S M van der Maarel; Maria Bitner-Glindzicz; I Huber; Anthony P Monaco; Sue Malcolm; Marcus E Pembrey; Hans-Hilger Ropers; Frans P M Cremers
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
Science (New York, N.Y.) 1995;267(5198):685-8.
1995: F A Fletcher; K Huebner; L G Shaffer; N D Fairweather; Anthony P Monaco; U Müller; T Druck; D K Simoneaux; J Chelly; J W Belmont
Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase elk to a 200-kilobasepair region in human chromosome Xq12.
Genomics 1995;25(1):334-5.
1995: Patrick Bolton; J Powell; M Rutter; V Buckle; J R Yates; Y Ishikawa-Brush; Anthony P Monaco
Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1).
Psychiatric genetics 1995;5(2):51-5.
1995: Anthony P Monaco; J Chelly
Menkes and Wilson diseases.
Advances in genetics 1995;33():233-53.
1994: C Stone; Jennifer J Pointon; E C Jazwinska; J W Halliday; L W Powell; Kathryn J H Robson; Anthony P Monaco; David J Weatherall
Isolation of CA dinucleotide repeats close to D6S105; linkage disequilibrium with haemochromatosis.
Human molecular genetics 1994;3(11):2043-6.
1994: U Müller; G Haberhausen; T Wagner; N D Fairweather; J Chelly; Anthony P Monaco
DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3).
Genomics 1994;23(1):114-7.
1994: I Huber; Maria Bitner-Glindzicz; Yvette J M de Kok; S M van der Maarel; Y Ishikawa-Brush; Anthony P Monaco; D Robinson; Sue Malcolm; Marcus E Pembrey; Han G Brunner
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.
Human molecular genetics 1994;3(7):1151-4.
1994: A M George; V Reed; P Glenister; J Chelly; Zeynep Tümer; Nina Horn; Anthony P Monaco; Y Boyd
Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice.
Genomics 1994;22(1):27-35.
1994: Anthony P Monaco; Zoia Larin
YACs, BACs, PACs and MACs: artificial chromosomes as research tools.
Trends in biotechnology 1994;12(7):280-6.
1994: M Ho; J Chelly; N Carter; Adrian Danek; P Crocker; Anthony P Monaco
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.
Cell 1994;77(6):869-80.
1994: Anthony P Monaco
Isolation of genes from cloned DNA.
Current opinion in genetics & development 1994;4(3):360-5.
1994: Anthony P Monaco; Zoia Larin; Hans Lehrach
Construction of yeast artificial chromosome libraries by pulsed-field gel electrophoresis.
Molecular biotechnology 1994;1(3):241-9.
1994: J M Shipley; J Clark; A J Crew; S Birdsall; P J Rocques; S Gill; J Chelly; Anthony P Monaco; S Abe; Barry A Gusterson
The t(X;18)(p11.2;q11.2) translocation found in human synovial sarcomas involves two distinct loci on the X chromosome.
Oncogene 1994;9(5):1447-53.
1994: TL Hagemann; R Surosky; Anthony P Monaco; H Lehrach; Fred S Rosen; SP Kwan
Physical mapping in a YAC contig of 11 markers on the human X chromosome in Xp11.23.
Genomics 1994;21(1):262-5.
1994: A N Stafford; S H Rider; Julian M Hopkin; William O C M Cookson; Anthony P Monaco
A 2.8 Mb YAC contig in 11q12-q13 localizes candidate genes for atopy: Fc epsilon RI beta and CD20.
Human molecular genetics 1994;3(5):779-85.
1994: V Reed; S Rider; G L Maslen; E Hatchwell; HJ Blair; I C Uwechue; IW Craig; S H Laval; Anthony P Monaco; Y Boyd
A 2-Mb YAC contig encompassing three loci (DXF34, DXS14, and DXS390) that lie between Xp11.2 translocation breakpoints associated with incontinentia pigmenti type 1.
Genomics 1994;20(3):341-6.
1994: Fiona Francis; F Benham; Chee Gee See; M Fox; Y Ishikawa-Brush; Anthony P Monaco; B Weiss; G Rappold; RM Hamvas; Hans Lehrach
Identification of YAC and cosmid clones encompassing the ZFX-POLA region using irradiation hybrid cell lines.
Genomics 1994;20(1):75-83.
1994: S Cochrane; J Bergoffen; N D Fairweather; E Müller; M L Mostacciuolo; Anthony P Monaco; Kenneth H Fischbeck; Neva E Haites
X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
Journal of medical genetics 1994;31(3):193-6.
1994: N Fairweather; C Bell; S Cochrane; J Chelly; S Wang; M L Mostacciuolo; Anthony P Monaco; Neva E Haites
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
Human molecular genetics 1994;3(1):29-34.
1994: H F Willard; F Cremers; J L Mandel; Anthony P Monaco; D L Nelson; David Schlessinger
Report and abstracts of the Fifth International Workshop on Human X Chromosome Mapping 1994. Heidelberg, Germany, April 24-27, 1994.
Cytogenetics and cell genetics 1994;67(4):295-358.
1993: Ron Suijkerbuijk; Aurelia Meloni-Ehrig; RJ Sinke; B de Leeuw; M Wilbrink; H A Janssen; M T Geraghty; Anthony P Monaco; A A Sandberg; Ad Geurts van Kessel
Identification of a yeast artificial chromosome that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2.
Cancer genetics and cytogenetics 1993;71(2):164-9.
1993: M B Graeber; U Müller; Anthony P Monaco; J L Weber
Four dinucleotide repeat polymorphisms at the D7S804 locus.
Human molecular genetics 1993;2(12):2195.
1993: M Pearce; Derek J Blake; Jon Tinsley; B C Byth; L Campbell; Anthony P Monaco; Kay E Davies
The utrophin and dystrophin genes share similarities in genomic structure.
Human molecular genetics 1993;2(11):1765-72.
1993: S H Rider; Anthony P Monaco
Primers for the dinucleotide repeat at the DXS453 locus also recognizes the DXS983 locus.
Human molecular genetics 1993;2(9):1510.
1993: M J Francis; Karen E Morrison; L Campbell; P K Grewal; Z Christodoulou; R J Daniels; Anthony P Monaco; A M Frischauf; J McPherson; J Wasmuth
A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.
Human molecular genetics 1993;2(8):1161-7.
1993: R G Lafrenière; Carolyn J Brown; S Rider; J Chelly; P Taillon-Miller; A C Chinault; Anthony P Monaco; Huntington F Willard
2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.
Human molecular genetics 1993;2(8):1105-15.
1993: S Markiewicz; James P DiSanto; J Chelly; N Fairweather; B Le Marec; C Griscelli; M B Graeber; U Müller; Alain Fischer; Anthony P Monaco
Fine mapping of the human SCIDX1 locus at Xq12-13.1.
Human molecular genetics 1993;2(6):651-4.
1993: N Fairweather; J Chelly; Anthony P Monaco
Dinucleotide repeat polymorphisms from DXS106 and DXS227 YACs using a two stage approach.
Human molecular genetics 1993;2(5):607-8.
1993: Michael T Geraghty; L C Brody; L S Martin; M Marble; William G Kearns; P Pearson; Anthony P Monaco; H Lehrach; David Valle
The isolation of cDNAs from OATL1 at Xp 11.2 using a 480-kb YAC.
Genomics 1993;16(2):440-6.
1993: B de Leeuw; Wolfgang Berger; RJ Sinke; Ron Suijkerbuijk; S Gilgenkrantz; M T Geraghty; David Valle; Anthony P Monaco; H Lehrach; Hans-Hilger Ropers
Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma-specific t(X;18)(p11.2;q11.2) breakpoint.
Genes, chromosomes & cancer 1993;6(3):182-9.
1993: A P Walker; F Muscatelli; Anthony P Monaco
Isolation of the human Xp21 glycerol kinase gene by positional cloning.
Human molecular genetics 1993;2(2):107-14.
1993: J Chelly; Zeynep Tümer; T Tønnesen; A Petterson; Y Ishikawa-Brush; Niels Tommerup; Nina Horn; Anthony P Monaco
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.
Nature genetics 1993;3(1):14-9.
1993: Arthur A B Bergen; M C Wapenaar; E J Schuurman; P J Diergaarde; H Lerach; Anthony P Monaco; Egbert Bakker; EM Bleeker-Wagemakers; Gert-Jan B van Ommen
Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning.
Cytogenetics and cell genetics 1993;62(4):231-5.
1993: David Schlessinger; J L Mandel; Anthony P Monaco; D L Nelson; H F Willard
Report and abstracts of the Fourth International Workshop on Human X Chromosome Mapping 1993. St. Louis, Missouri, May 9-12, 1993.
Cytogenetics and cell genetics 1993;64(3-4):147-94.
1993: R D Cox; S Meier-Ewert; M Ross; Zoia Larin; Anthony P Monaco; Hans Lehrach
Genome mapping and cloning of mutations using yeast artificial chromosomes.
Methods in enzymology 1993;225():637-53.
1993: Zoia Larin; Anthony P Monaco; S Meier-Ewert; Hans Lehrach
Construction and characterization of yeast artificial chromosome libraries from the mouse genome.
Methods in enzymology 1993;225():623-37.
1993: Anthony P Monaco
Molecular human genetics and the Duchenne/Becker muscular dystrophy gene.
Molecular and cell biology of human diseases series 1993;3():1-11.
1993: Q Wang; Y Ishikawa-Brush; Anthony P Monaco; D L Nelson; C T Caskey; S P Pauly; Gilbert M Lenoir; Bakary S Sylla
Physical mapping of Xq24-25 around loci closely linked to the X-linked lymphoproliferative syndrome locus: an overlapping YAC map and linkage between DXS12, DXS42, and DXS37.
European journal of human genetics : EJHG 1993;1(1):64-71.
1992: M B Graeber; Anthony P Monaco; J Chelly; U Müller
Isolation of DNTR polymorphisms from yeast artificial chromosomes encompassing X chromosomal loci PGK1 and DXS56.
Human genetics 1992;90(3):270-4.
1992: J C Knight; B R Reeves; L Kearney; Anthony P Monaco; H Lehrach; Colin S Cooper
Localization of the synovial sarcoma t(X;18)(p11.2;q11.2) breakpoint by fluorescence in situ hybridization.
Human molecular genetics 1992;1(8):633-7.
1992: J L Mandel; Anthony P Monaco; D L Nelson; David Schlessinger; H F Willard; M Chipperfield; P Pearson; P Gilna; M Cinkosky
Genome maps III. 1992. Wall Chart.
Science (New York, N.Y.) 1992;258(5079):87-102.
1992: J L Mandel; Anthony P Monaco; D L Nelson; David Schlessinger; H Willard
Genome analysis and the human X chromosome.
Science (New York, N.Y.) 1992;258(5079):103-9.
1992: Dariusz C Górecki; Anthony P Monaco; J M Derry; A P Walker; Eric A Barnard; P J Barnard
Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters.
Human molecular genetics 1992;1(7):505-10.
1992: Zeynep Tümer; J Chelly; Niels Tommerup; Y Ishikawa-Brush; T Tønnesen; Anthony P Monaco; Nina Horn
Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease.
Human molecular genetics 1992;1(7):483-9.
1992: Wolfgang Berger; Alfons Meindl; T J van de Pol; Frans P M Cremers; Hans-Hilger Ropers; C Döerner; Anthony P Monaco; A A Bergen; R Lebo; M Warburgh
Isolation of a candidate gene for Norrie disease by positional cloning.
Nature genetics 1992;2(1):84.
1992: J P Hugnot; H Gilgenkrantz; N Vincent; P Chafey; G E Morris; Anthony P Monaco; Y Berwald-Netter; Annette Koulakoff; Jean-Claude Kaplan; Axel Kahn
Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(16):7506-10.
1992: Linda M Brzustowicz; P W Kleyn; F M Boyce; L L Lien; Anthony P Monaco; Graciela Penchaszadeh; Kamna Das; C H Wang; T L Munsat; Jurg Ott
Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.
Genomics 1992;13(4):991-8.
1992: E Maier; Jörg D Hoheisel; L McCarthy; R Mott; A V Grigoriev; Anthony P Monaco; Zoia Larin; Hans Lehrach
Complete coverage of the Schizosaccharomyces pombe genome in yeast artificial chromosomes.
Nature genetics 1992;1(4):273-7.
1992: Wolfgang Berger; Alfons Meindl; T J van de Pol; Frans P M Cremers; Hans-Hilger Ropers; C Döerner; Anthony P Monaco; A A Bergen; R Lebo; M Warburg
Isolation of a candidate gene for Norrie disease by positional cloning.
Nature genetics 1992;1(3):199-203.
1992: Gillian P Bates; J Valdes; H Hummerich; S Baxendale; D L Le Paslier; Anthony P Monaco; Danilo A Tagle; Marcy E MacDonald; M Altherr; M Ross
Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region.
Nature genetics 1992;1(3):180-7.
1992: Johan T den Dunnen; P M Grootscholten; J G Dauwerse; A P Walker; Anthony P Monaco; R Butler; R Anand; A J Coffey; David R Bentley; H Yde Steensma
Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination.
Human molecular genetics 1992;1(1):19-28.
1992: Anthony P Monaco; A P Walker; I Millwood; Zoia Larin; Hans Lehrach
A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene.
Genomics 1992;12(3):465-73.
1992: M F Ho; Anthony P Monaco; L A Blonden; G J van Ommen; N A Affara; M A Ferguson-Smith; H Lehrach
Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21.
American journal of human genetics 1992;50(2):317-30.
1992: Anthony P Monaco; Z Lark; Hans Lehrach
Construction of yeast artificial chromosome libraries by pulsed-field gel electrophoresis.
Methods in molecular biology (Clifton, N.J.) 1992;12():225-34.
1992: Françoise Muscatelli; Anthony P Monaco; P N Goodfellow; M C Hors-Cayla; H Lehrach; M Fontes
Isolation of new probes from Xq12-->q13: an example of the screening of reference libraries with Alu-PCR products from radiation hybrids.
Cytogenetics and cell genetics 1992;61(2):109-13.
1992: K Baldrich; M Baldrich; Anthony P Monaco; Clemens R Müller
Replication errors may contribute to the generation of large deletions and duplications in the dystrophin gene.
Human mutation 1992;1(4):280-7.
1991: Anthony P Monaco; U Müller; Zoia Larin; S Meier-Ewert; Hans Lehrach
Isolation of the human sex determining region from a Y-enriched yeast artificial chromosome library.
Genomics 1991;11(4):1049-53.
1991: Anthony P Monaco; V M Lam; G Zehetner; G G Lennon; C Douglas; Dean Nizetic; P N Goodfellow; Hans Lehrach
Mapping irradiation hybrids to cosmid and yeast artificial chromosome libraries by direct hybridization of Alu-PCR products.
Nucleic acids research 1991;19(12):3315-8.
1991: A Dietrich; Petra Kioschis; Anthony P Monaco; B Gross; Bernhard Korn; S V Williams; Denise Sheer; D Heitz; I Oberle; Daniela Toniolo
Molecular cloning and analysis of the fragile X region in man.
Nucleic acids research 1991;19(10):2567-72.
1991: Zoia Larin; Anthony P Monaco; Hans Lehrach
Yeast artificial chromosome libraries containing large inserts from mouse and human DNA.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(10):4123-7.
1991: Jiannis Ragoussis; Anthony P Monaco; I Mockridge; E Kendall; R D Campbell; J Trowsdale
Cloning of the HLA class II region in yeast artificial chromosomes.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(9):3753-7.
1991: D Nizetić; G Zehetner; Anthony P Monaco; L Gellen; B D Young; Hans Lehrach
Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(8):3233-7.
1991: J F Powell; F H Fodor; D J Cockburn; Anthony P Monaco; IW Craig
A dinucleotide repeat polymorphism at the DMD locus.
Nucleic acids research 1991;19(5):1159.
1990: N D Carter; J E Morgan; Anthony P Monaco; M S Schwartz; Steve Jeffery
Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome).
Journal of medical genetics 1990;27(6):345-7.
1990: K E Davies; J L Mandel; Anthony P Monaco; Robert L Nussbaum; H F Willard
Report of the committee on the genetic constitution of the X chromosome.
Cytogenetics and cell genetics 1990;55(1-4):254-313.
1989: Anthony P Monaco
Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene.
Trends in biochemical sciences 1989;14(10):412-5.
1988: M Koenig; Anthony P Monaco; Louis Kunkel
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
Cell 1988;53(2):219-28.
1988: Margit Burmeister; Anthony P Monaco; E F Gillard; G J van Ommen; Nabeel A Affara; Malcolm A Ferguson-Smith; Louis Kunkel; Hans Lehrach
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene.
Genomics 1988;2(3):189-202.
1988: Anthony P Monaco; C J Bertelson; S Liechti-Gallati; H Moser; Louis Kunkel
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
Genomics 1988;2(1):90-5.
1988: Anthony P Monaco; Louis Kunkel
Cloning of the Duchenne/Becker muscular dystrophy locus.
Advances in human genetics 1988;17():61-98.
1987: Jeffrey S Chamberlain; S G Grant; A A Reeves; L J Mullins; D A Stephenson; Eric Hoffman; Anthony P Monaco; Louis Kunkel; CT Caskey; Verne M Chapman
Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome.
Somatic cell and molecular genetics 1987;13(6):671-8.
1987: Eric Hoffman; Anthony P Monaco; C C Feener; Louis Kunkel
Conservation of the Duchenne muscular dystrophy gene in mice and humans.
Science (New York, N.Y.) 1987;238(4825):347-50.
1987: K A Hart; Anthony P Monaco; Louis Kunkel; M Bobrow
A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region?
Human genetics 1987;77(1):88-91.
1987: M Koenig; Eric Hoffman; C J Bertelson; Anthony P Monaco; C Feener; Louis Kunkel
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.
Cell 1987;50(3):509-17.
1987: Anthony P Monaco; C J Bertelson; C Colletti-Feener; Louis Kunkel
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy.
Human genetics 1987;75(3):221-7.
1987: Louis Kunkel; Anthony P Monaco; Eric Hoffman; M Koenig; C Feener; C Bertelson
Molecular studies of progressive muscular dystrophy (Duchenne).
Enzyme 1987;38(1-4):72-5.
1986: C J Bertelson; J A Bartley; Anthony P Monaco; C Colletti-Feener; Kenneth H Fischbeck; Louis Kunkel
Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.
Journal of medical genetics 1986;23(6):531-7.
1986: G J van Ommen; J M Verkerk; M H Hofker; Anthony P Monaco; Louis Kunkel; P Ray; R Worton; B Wieringa; E Bakker; P L Pearson
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome.
Cell 1986;47(4):499-504.
1986: Anthony P Monaco; R L Neve; C Colletti-Feener; C J Bertelson; D M Kurnit; Louis Kunkel
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.
Nature 1986;323(6089):646-50.
1986: U Müller; U Tantravahi; Anthony P Monaco; H Stroh; Louis Kunkel; S A Latt
Repeated DNA sequences in the distal long arm of the human X chromosome.
Human genetics 1986;74(1):24-9.
1986: Kenneth H Fischbeck; A W Ritter; D L Tirschwell; Louis Kunkel; C J Bertelson; Anthony P Monaco; J Fielding Hejtmancik; Corinne D Boehm; V Ionasescu; R Ionasescu
Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.
Lancet 1986;2(8498):104.
1986: Louis Kunkel; J Fielding Hejtmancik; C T Caskey; Astrid Speer; Anthony P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; Margaret Pericak-Vance; Allen D Roses; M W Thompson; P N Ray; R G Worton; Kenneth H Fischbeck; Pía Gallano; M Coulon; C Duros; J Boue; Claudine Junien; Jamel Chelly; G Hamard; Marc Jeanpierre; M Lambert; Jean-Claude Kaplan; A Emery; H Dorkins; S McGlade; Kay E Davies; Corinne D Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; Martin Bobrow; F Benham; E Boswinkel; C Cole; Victor Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; Alessandra Ferlini; C Nobile; Giovanni Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; Charles C Searby; R Ionasescu; Egbert Bakker; Gert-Jan B van Ommen; P L Pearson; Cheryl R Greenberg; J L Hamerton; Klaus Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; Jeffrey F Harper; B T Darras; U Francke
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Nature 1986;322(6074):73-7.
1986: B Royer-Pokora; Louis Kunkel; Anthony P Monaco; S C Goff; P E Newburger; R L Baehner; F S Cole; J T Curnutte; Stuart H Orkin
Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.
Nature 1986;322(6074):32-8.
1986: R L Baehner; Louis Kunkel; Anthony P Monaco; Jonathan L Haines; P M Conneally; C Palmer; N Heerema; Stuart H Orkin
DNA linkage analysis of X chromosome-linked chronic granulomatous disease.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(10):3398-401.
1986: Louis Kunkel; Anthony P Monaco; C J Bertelson; C A Colletti
Molecular genetics of Duchenne muscular dystrophy.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():349-51.
1986: B Royer-Pokora; Louis Kunkel; Anthony P Monaco; S C Goff; P E Newburger; R L Baehner; F S Cole; J T Curnutte; Stuart H Orkin
Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():177-83.
1985: Anthony P Monaco; C J Bertelson; W Middlesworth; C A Colletti; J Aldridge; Kenneth H Fischbeck; R Bartlett; Margaret Pericak-Vance; Allen D Roses; Louis Kunkel
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
Nature 1985;316(6031):842-5.
1985: Louis Kunkel; Anthony P Monaco; W Middlesworth; H D Ochs; S A Latt
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.
Proceedings of the National Academy of Sciences of the United States of America 1985;82(14):4778-82.
1985: Louis Kunkel; M Lalande; Anthony P Monaco; A Flint; W Middlesworth; S A Latt
Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci.
Gene 1985;33(3):251-8.