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Peter Scambler

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Francesca C Norris; Sebastien Ourselin; Anthony N Price; Peter J Scambler; Jon O Cleary; Karen McCue; Marc Modat; Mark F Lythgoe
Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: comparison and validation with manual segmentation.
Jolanta E Pitera; Mark Turmaine; Adrian S Woolf; Peter J Scambler
Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.
Jolanta E Pitera; M Albert Basson; Adrian S Woolf; Peter J Scambler
Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.

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All Publications

2013: Francesca C Norris; Sebastien Ourselin; Anthony N Price; Peter J Scambler; Jon O Cleary; Karen McCue; Marc Modat; Mark F Lythgoe
Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: comparison and validation with manual segmentation.
Magnetic resonance in medicine : official journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine 2013;69(3):877-83.
2012: Jolanta E Pitera; Mark Turmaine; Adrian S Woolf; Peter J Scambler
Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.
Genesis (New York, N.Y. : 2000) 2012;50(12):892-8.
2012: Jolanta E Pitera; M Albert Basson; Adrian S Woolf; Peter J Scambler
Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.
Journal of the American Society of Nephrology : JASN 2012;23(11):1790-6.
2012: Maartje J Vogel; Martin Zenker; Marc C van Tuil; Patrick van Zon; Edward Blair; Louise Brueton; Phillip Cox; Siavash Ghaderi-Sohi; Marleen Gijzen; Ariana Kariminejad; Hans Kristian Ploos van Amstel; Peter J Scambler; Denny Schanze; Mieke M van Haelst
Mutations in GRIP1 cause Fraser syndrome.
Journal of medical genetics 2012;49(5):303-6.
2011: Miriam Aza-Carmona; Debbie J Shears; Patricia Yuste-Checa; Verónica Barca-Tierno; Alfonso Hisado-Oliva; Alberta Belinchón; Sara Benito-Sanz; J Ignacio Rodríguez; Jesús Argente; Angel Campos-Barros; Peter J Scambler; Karen E Heath
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
Human molecular genetics 2011;20(8):1547-59.
2011: Suzanne Rix; Amelie Calmont; Peter J Scambler; Philip L Beales
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.
Human molecular genetics 2011;20(7):1306-14.
2011: A Calmont; Nikhil Thapar; Peter J Scambler; Alan J Burns
Absence of the vagus nerve in the stomach of Tbx1-/- mutant mice.
Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society 2011;23(2):125-30.
2011: Jon O Cleary; Marc Modat; Francesca C Norris; Anthony N Price; Sujatha A Jayakody; Juan Pedro Martinez-Barbera; Nicholas D E Greene; David J Hawkes; Roger J Ordidge; Peter J Scambler; Sébastien Ourselin; Mark F Lythgoe
Magnetic resonance virtual histology for embryos: 3D atlases for automated high-throughput phenotyping.
NeuroImage 2011;54(2):769-78.
2011: Yuen Fei Wong; Jeffrey B Kopp; Catherine Roberts; Peter J Scambler; Yoshifusa Abe; Alexandra C Rankin; Neelanjana Dutt; Bruce M Hendry; Qihe Xu
Endogenous retinoic acid activity in principal cells and intercalated cells of mouse collecting duct system.
PloS one 2011;6(2):e16770.
2010: Yun Li; Barbara Pawlik; Nursel Elcioglu; Mona Aglan; Hulya Kayserili; Gökhan Yigit; Ferda Percin; Frances Goodman; Gudrun Nürnberg; Asim Cenani; Jill Urquhart; Boi-Dinh Chung; Samira Ismail; Khalda Amr; Ayca D Aslanger; Christian Becker; Christian Netzer; Peter J Scambler; Wafaa Eyaid; Hanan Hamamy; Jill Clayton-Smith; Raoul Hennekam; Peter Nürnberg; Joachim Herz; Samia A Temtamy; Bernd Wollnik
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
American journal of human genetics 2010;86(5):696-706.
2010: Kelly Lammerts van Bueren; Irinna Papangeli; Francesca Rochais; Kerra Pearce; Catherine Roberts; Amelie Calmont; Dorota Szumska; Robert G Kelly; Shoumo Bhattacharya; Peter J Scambler
Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.
Developmental biology 2010;340(2):369-80.
2010: Peter J Scambler
22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.
Pediatric cardiology 2010;31(3):378-90.
2010: Aaron D Goldberg; Laura A Banaszynski; Kyung-Min Noh; Peter Lewis; Simon J Elsaesser; Sonja Stadler; Scott Dewell; Martin Law; Xingyi Guo; Xuan Li; Duancheng Wen; Ariane Chapgier; Russell C DeKelver; Jeffrey C Miller; Ya-Li Lee; Elizabeth A Boydston; Michael C Holmes; Philip D Gregory; John M Greally; Shahin Rafii; Chingwen Yang; Peter J Scambler; David Garrick; Richard J Gibbons; Douglas R Higgs; Ileana M Cristea; Fyodor D Urnov; Deyou Zheng; C David Allis
Distinct factors control histone variant H3.3 localization at specific genomic regions.
Cell 2010;140(5):678-91.
2009: Victoria Randall; Karen McCue; Catherine Roberts; Vanessa Kyriakopoulou; Sarah Beddow; Angela N Barrett; Francesca Vitelli; Katrina Prescott; Charles Shaw-Smith; koenraad devriendt; Erika Bosman; Georg Steffes; Karen P Steel; Subreena Simrick; M Albert Basson; Elizabeth Illingworth; Peter J Scambler
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.
The Journal of clinical investigation 2009;119(11):3301-10.
2009: Jon O Cleary; Anthony N Price; David L Thomas; Peter J Scambler; Vanessa Kyriakopoulou; Karen McCue; Jürgen E Schneider; Roger J Ordidge; Mark F Lythgoe
Cardiac phenotyping in ex vivo murine embryos using microMRI.
NMR in biomedicine 2009;22(8):857-66.
2009: Amélie Calmont; Sarah Ivins; Kelly Lammerts van Bueren; Irinna Papangeli; Vanessa Kyriakopoulou; William D Andrews; James F Martin; Anne M Moon; Elizabeth A Illingworth; M Albert Basson; Peter J Scambler
Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm.
Development (Cambridge, England) 2009;136(18):3173-83.
2009: Sagair Hussain; Leile Romio; Moin Saleem; Peter W Mathieson; Manuel Serrano; Jorge Moscat; Maria Diaz-Meco; Peter J Scambler; Ania Koziell
Nephrin deficiency activates NF-kappaB and promotes glomerular injury.
Journal of the American Society of Nephrology : JASN 2009;20(8):1733-43.
2009: Stephen R F Twigg; Sarah L Versnel; Gudrun Nürnberg; Melissa M Lees; Meenakshi Bhat; Peter Hammond; Raoul Hennekam; A J M Hoogeboom; Jane A Hurst; David Johnson; Alexis A Robinson; Peter J Scambler; Dianne Gerrelli; Peter Nürnberg; Irene M J Mathijssen; Andrew O M Wilkie
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
American journal of human genetics 2009;84(5):698-705.
2009: F Gabriella Fulcoli; Tuong Huynh; Peter J Scambler; Antonio Baldini
Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner.
PloS one 2009;4(6):e6049.
2008: Jolanta Pitera; Peter J Scambler; Adrian S Woolf
Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.
Human molecular genetics 2008;17(24):3953-64.
2008: Mieke M van Haelst; M Maiburg; G Baujat; Shalini Jadeja; E Monti; E Bland; K Pearce; Raoul Hennekam; Peter J Scambler
Molecular study of 33 families with Fraser syndrome new data and mutation review.
American journal of medical genetics. Part A 2008;146A(17):2252-7.
2007: Mieke M van Haelst; Peter J Scambler; Raoul Hennekam
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.
American journal of medical genetics. Part A 2007;143A(24):3194-203.
2007: Robyn V Jamieson; Nicola Farrar; Katrina Stewart; Rahat Perveen; Marija Mihelec; Martin Carette; John R Grigg; John W McAvoy; Frank J Lovicu; Patrick P L Tam; Peter J Scambler; Christopher Lloyd; Dian Donnai; Graeme C M Black
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
Human mutation 2007;28(10):968-77.
2007: Philip L Beales; Elizabeth Bland; Jonathan Tobin; Chiara Bacchelli; Beyhan Tuysuz; Josephine Hill; Suzanne Rix; Chad Pearson; Masatake Kai; Jane Hartley; Colin Johnson; Melita Irving; Nursel Elcioglu; Mark Winey; Masazumi Tada; Peter J Scambler
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
Nature genetics 2007;39(6):727-9.
2007: Sinthuja Sivagnanasundaram; Danielle Fletcher; Mike Hubank; Elizabeth Illingworth; David Skuse; Peter J Scambler
Differential gene expression in the hippocampus of the Df1/+ mice: a model for 22q11.2 deletion syndrome and schizophrenia.
Brain research 2007;1139():48-59.
2007: Akbar Dastjerdi; Lesley Robson; Rebecca Walker; Julia Hadley; Zhen Zhang; Marc Rodriguez-Niedenführ; Paris Ataliotis; Antonio Baldini; Peter J Scambler; Philippa Francis-West
Tbx1 regulation of myogenic differentiation in the limb and cranial mesoderm.
Developmental dynamics : an official publication of the American Association of Anatomists 2007;236(2):353-63.
2006: Catherine Roberts; Sarah Ivins; Andrew Cook; Antonio Baldini; Peter J Scambler
Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick.
Human molecular genetics 2006;15(23):3394-410.
2006: Richard Paylor; Beate Glaser; Annalisa Mupo; Paris Ataliotis; Corinne Spencer; Angela Sobotka; Chelsey Sparks; Chul-Hee Choi; John S Oghalai; Sarah Curran; Kieran C Murphy; Stephen Monks; Nigel Williams; Michael C O'Donovan; Michael J Owen; Peter J Scambler; Elizabeth Lindsay
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(20):7729-34.
2006: Eran Meshorer; Dhananjay Yellajoshula; Eric George; Peter J Scambler; David T Brown; Tom Misteli
Hyperdynamic plasticity of chromatin proteins in pluripotent embryonic stem cells.
Developmental cell 2006;10(1):105-16.
2005: Peter Hammond; Tim J Hutton; Judith E Allanson; Bernard Buxton; Linda E Campbell; Jill Clayton-Smith; Dian Donnai; Annette Karmiloff-Smith; Kay Metcalfe; Kieran C Murphy; Michael Patton; Barbara Pober; Katrina Prescott; Peter J Scambler; Adam Shaw; Ann C M Smith; Angela F Stevens; I Karen Temple; Raoul Hennekam; May Tassabehji
Discriminating power of localized three-dimensional facial morphology.
American journal of human genetics 2005;77(6):999-1010.
2005: Mieke M van Haelst; Jeannette Hoogeboom; Geneviève Baujat; Hennie T Brüggenwirth; Ingrid Van de Laar; Kim Coleman; Nazneen Rahman; Martinus F Niermeijer; Stenvert L S Drop; Peter J Scambler
Familial gigantism caused by an NSD1 mutation.
American journal of medical genetics. Part A 2005;139(1):40-4.
2005: Ian Smyth; Peter J Scambler
The genetics of Fraser syndrome and the blebs mouse mutants.
Human molecular genetics 2005;14 Spec No. 2():R269-74.
2005: Céline Huber; Dora Dias-Santagata; Anna Glaser; James O'Sullivan; Raja Brauner; Kenneth Wu; Xinsong Xu; Kerra Pearce; Rong Wang; Maria Luisa Giovannucci Uzielli; Nathalie Dagoneau; Wassim Chemaitilly; andrea superti-furga; Heloisa Dos Santos; André Mégarbané; Gilles Morin; Gabriele Gillessen-Kaesbach; Raoul Hennekam; Ineke van der Burgt; Graeme C M Black; Peter E Clayton; Andrew Read; Martine Le Merrer; Peter J Scambler; Arnold Munnich; Zhen-Qiang Pan; Robin Winter; Valérie Cormier-Daire
Identification of mutations in CUL7 in 3-M syndrome.
Nature genetics 2005;37(10):1119-24.
2005: Sarah Ivins; Kelly Lammerts van Beuren; Catherine Roberts; Chela T James; Elizabeth Lindsay; Antonio Baldini; Paris Ataliotis; Peter J Scambler
Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1.
Developmental biology 2005;285(2):554-69.
2005: Kate Baker; Torsten Baldeweg; Sinthuja Sivagnanasundaram; Peter J Scambler; David Skuse
COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome.
Biological psychiatry 2005;58(1):23-31.
2005: Shalini Jadeja; Ian Smyth; Jolanta Pitera; Martin Taylor; Mieke M van Haelst; Elizabeth Bentley; Lesley McGregor; Jason Hopkins; Georges Chalepakis; Nicole Philip; Antonio Perez-Aytes; Fiona M Watt; Susan M Darling; Ian Jackson; Adrian S Woolf; Peter J Scambler
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.
Nature genetics 2005;37(5):520-5.
2005: Katrina Prescott; Sarah Ivins; Mike Hubank; Elizabeth Lindsay; Antonio Baldini; Peter J Scambler
Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome.
Human genetics 2005;116(6):486-96.
2005: Philippa B Mills; Robert Surtees; Michael P Champion; Clare E Beesley; Neil Dalton; Peter J Scambler; Simon J R Heales; Anthony Briddon; Irene Scheimberg; Georg F Hoffmann; Johannes Zschocke; Peter T Clayton
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
Human molecular genetics 2005;14(8):1077-86.
2005: Paris Ataliotis; Sarah Ivins; Timothy J Mohun; Peter J Scambler
XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis.
Developmental dynamics : an official publication of the American Association of Anatomists 2005;232(4):979-91.
2005: Catherine Roberts; Sarah Ivins; Chela T James; Peter J Scambler
Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.
Developmental dynamics : an official publication of the American Association of Anatomists 2005;232(4):928-38.
2005: Kirsten Heathcote; Claire Braybrook; Lulu Abushaban; Michelle Guy; Maher E Khetyar; Michael A Patton; Nicholas D Carter; Peter J Scambler; Petros Syrris
Common arterial trunk associated with a homeodomain mutation of NKX2.6.
Human molecular genetics 2005;14(5):585-93.
2005: Katrina Prescott; Kathryn Woodfine; Paula Stubbs; Maurice Super; Bronwyn Kerr; Rodger Palmer; Nigel P Carter; Peter J Scambler
A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome.
Human genetics 2005;116(1-2):83-90.
2004: Adrian S Woolf; Karen L Price; Peter J Scambler; Paul J D Winyard
Evolving concepts in human renal dysplasia.
Journal of the American Society of Nephrology : JASN 2004;15(4):998-1007.
2004: Kogo Takamiya; Vassiliki Kostourou; Susanne Adams; Shalini Jadeja; Georges Chalepakis; Peter J Scambler; Richard Huganir; Ralf H Adams
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.
Nature genetics 2004;36(2):172-7.
2003: Bethan E Hoskins; Anita Thorn; Peter J Scambler; Philip L Beales
Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.
Human mutation 2003;22(2):151-7.
2003: Neil V Morgan; Chiara Bacchelli; Paul Gissen; J Morton; Giovanni Battista Ferrero; Margherita Silengo; P Labrune; I Casteels; C Hall; Phillip Cox; Deirdre A Kelly; Richard C Trembath; Peter J Scambler; Eamonn R Maher; Frances R Goodman; Colin A Johnson
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.
Journal of medical genetics 2003;40(6):431-5.
2003: Sophia Vrontou; Petros Petrou; Barbara I Meyer; Vassilis K Galanopoulos; Kenji Imai; Masayuki Yanagi; Kamal Chowdhury; Peter J Scambler; Georges Chalepakis
Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.
Nature genetics 2003;34(2):209-14.
2003: Lesley McGregor; Ville Makela; Susan M Darling; Sofia Vrontou; Georges Chalepakis; Catherine Roberts; Nicola Smart; Paul Rutland; Natalie Prescott; Jason Hopkins; Elizabeth Bentley; Alison Shaw; Emma Roberts; Robert Mueller; Shalini Jadeja; Nicole Philip; John Nelson; Christine Francannet; Antonio Perez-Aytes; André Megarbane; Bronwyn Kerr; Brandon Wainwright; Adrian S Woolf; Robin M Winter; Peter J Scambler
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
Nature genetics 2003;34(2):203-8.
2003: Philip L Beales; Jose L Badano; Alison J Ross; Stephen J Ansley; Bethan E Hoskins; Brigitta Kirsten; Charles A Mein; philippe froguel; Peter J Scambler; Richard Alan Lewis; James R Lupski; Nicholas Katsanis
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
American journal of human genetics 2003;72(5):1187-99.
2003: Giuliana Caronia; Frances R Goodman; Carole M E McKeown; Peter J Scambler; Vincenzo Zappavigna
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.
Development (Cambridge, England) 2003;130(8):1701-12.
2002: Philippe Debeer; Chiara Bacchelli; Peter J Scambler; L De Smet; J-P Fryns; Frances R Goodman
Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
Journal of medical genetics 2002;39(11):852-6.
2002: Peter Lichtner; T Attié-Bitach; S Schuffenhauer; J Henwood; P Bouvagnet; Peter J Scambler; Thomas Meitinger; M Vekemans
Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p.
Journal of molecular medicine (Berlin, Germany) 2002;80(7):431-42.
2002: Nicholas Katsanis; Erica R Eichers; Stephen J Ansley; Richard Alan Lewis; Hulya Kayserili; Bethan E Hoskins; Peter J Scambler; Philip L Beales; James R Lupski
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
American journal of human genetics 2002;71(1):22-9.
2002: Deborah J Shears; Encarna Guillen-Navarro; Manuel Sempere-Miralles; Rosario Domingo-Jimenez; Peter J Scambler; Robin M Winter
Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.
American journal of medical genetics 2002;110(2):153-7.
2002: Jeffrey W Innis; Frances R Goodman; Chiara Bacchelli; Thomas M Williams; Douglas P Mortlock; Praveen Sateesh; Peter J Scambler; Wendy McKinnon; Alan E Guttmacher
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.
Human mutation 2002;19(5):573-4.
2002: Catherine Roberts; Helen F Sutherland; Hannah Farmer; Wendy Kimber; Stephanie Halford; Alisoun Carey; Joshua M Brickman; Anthony Wynshaw-Boris; Peter J Scambler
Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality.
Molecular and cellular biology 2002;22(7):2318-28.
2002: Ania Koziell; Victor Grech; Sagair Hussain; Gary Lee; Ulla Lenkkeri; Karl Tryggvason; Peter J Scambler
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
Human molecular genetics 2002;11(4):379-88.
2002: Frances R Goodman; Frank Majewski; Amanda L Collins; Peter J Scambler
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
American journal of human genetics 2002;70(2):547-55.
2001: Jolanta Pitera; Peter J Milla; Peter J Scambler; J Adjaye
Cloning of HOXD1 from unfertilised human oocytes and expression analyses during murine oogenesis and embryogenesis.
Mechanisms of development 2001;109(2):377-81.
2001: Nicholas Katsanis; Stephen J Ansley; Jose L Badano; Erica R Eichers; R A Lewis; Bethan E Hoskins; Peter J Scambler; William S Davidson; Philip L Beales; James R Lupski
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Science (New York, N.Y.) 2001;293(5538):2256-9.
2001: Chiara Bacchelli; Frances R Goodman; Peter J Scambler; Robin M Winter
Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN.
Clinical genetics 2001;59(3):203-5.
2001: Elizabeth Lindsay; Francesca Vitelli; H Su; Masae Morishima; Tuong Huynh; Tiziano Pramparo; V Jurecic; G Ogunrinu; H F Sutherland; Peter J Scambler; Allan Bradley; Antonio Baldini
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice.
Nature 2001;410(6824):97-101.
2001: Sandra Merscher-gomez; Birgit Funke; Jonathan A Epstein; Joerg Heyer; Anne Puech; M M Lu; R J Xavier; M B Demay; R G Russell; Stephen M Factor; K Tokooya; B S Jore; M Lopez; RK Pandita; Mariel Lia; D Carrion; H Xu; Hubert Schorle; J B Kobler; Peter J Scambler; Anthony Wynshaw-Boris; Arthur I Skoultchi; Bernice E Morrow; Raju Kucherlapati
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.
Cell 2001;104(4):619-29.
2001: Frances R Goodman; Peter J Scambler
Human HOX gene mutations.
Clinical genetics 2001;59(1):1-11.
2000: Stephen P Robertson; Deborah J Shears; Paul Oei; Robin M Winter; Peter J Scambler; Salim Aftimos; Ravi Savarirayan
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.
Journal of medical genetics 2000;37(12):959-64.
2000: Peter J Scambler
The 22q11 deletion syndromes.
Human molecular genetics 2000;9(16):2421-6.
2000: Frances R Goodman; Chiara Bacchelli; Angela F Brady; Louise A Brueton; J P Fryns; Douglas P Mortlock; Jeffrey W Innis; L B Holmes; A E Donnenfeld; M Feingold; F A Beemer; Raoul Hennekam; Peter J Scambler
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
American journal of human genetics 2000;67(1):197-202.
2000: Donna-Marie Hagan; A J Ross; Tom Strachan; Sally-Ann Lynch; Victor L Ruiz-Perez; Y M Wang; Peter J Scambler; E Custard; William Reardon; S Hassan; P Nixon; C Papapetrou; Robin M Winter; Yvonne H Edwards; K Morrison; M Barrow; M P Cordier-Alex; P Correia; P A Galvin-Parton; S Gaskill; K J Gaskin; Sixto Garcia-Minaur; R Gereige; R Hayward; TF Homfray
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.
American journal of human genetics 2000;66(5):1504-15.
2000: Sue Ann Berend; AS Spikes; Catherine D Kashork; J M Wu; SC Daw; Peter J Scambler; Lisa Shaffer
Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
American journal of medical genetics 2000;91(4):313-7.
2000: Ania Koziell; Evangelia Charmandari; Peter C Hindmarsh; L Rees; Peter J Scambler; Charles G D Brook
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?
Clinical endocrinology 2000;52(4):519-24.
1999: Wendy Kimber; P Hsieh; Shinji Hirotsune; Lisa A Yuva-Paylor; H F Sutherland; Amy Chen; P Ruiz-Lozano; Shelley Hoogstraten-Miller; K R Chien; Richard Paylor; Peter J Scambler; Anthony Wynshaw-Boris
Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.
Human molecular genetics 1999;8(12):2229-37.
1999: J Wang; Lewis Spitz; R Hayward; Edward M Kiely; Christine M Hall; D P O'Donoghue; R Palmer; Frances R Goodman; Peter J Scambler; Robin M Winter; William Reardon
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.
European journal of pediatrics 1999;158(11):902-5.
1999: R Wadey; J McKie; C Papapetrou; H Sutherland; F Lohman; Jan Osinga; I Frohn; Robert M W Hofstra; Carel Meijers; F Amati; E Conti; A Pizzuti; B Dallapiccola; G Novelli; Peter J Scambler
Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.
American journal of human genetics 1999;65(1):247-9.
1999: Ania Koziell; R Grundy; T M Barratt; Peter J Scambler
Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes.
American journal of human genetics 1999;64(6):1778-81.
1998: A J Ross; Victor L Ruiz-Perez; Y Wang; Donna-Marie Hagan; S Scherer; Sally-Ann Lynch; S Lindsay; E Custard; E Belloni; David I Wilson; R Wadey; Frances R Goodman; K H Orstavik; T Monclair; Steve C Robson; William Reardon; John Burn; Peter J Scambler; Tom Strachan
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.
Nature genetics 1998;20(4):358-61.
1998: R G Grundy; Jon Pritchard; Peter J Scambler; John Kenneth Cowell
Loss of heterozygosity on chromosome 16 in sporadic Wilms' tumour.
British journal of cancer 1998;78(9):1181-7.
1998: Frances R Goodman; Maria Luisa Giovannucci Uzielli; C Hall; William Reardon; R Winter; Peter J Scambler
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
American journal of human genetics 1998;63(4):992-1000.
1998: P Magnaghi; Catherine Roberts; S Lorain; M Lipinski; Peter J Scambler
HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.
Nature genetics 1998;20(1):74-7.
1998: H F Sutherland; U J Kim; Peter J Scambler
Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse.
Genomics 1998;52(1):37-43.
1998: J M McKie; R B Wadey; H F Sutherland; C L Taylor; Peter J Scambler
Direct selection of conserved cDNAs from the DiGeorge critical region: isolation of a novel CDC45-like gene.
Genome research 1998;8(8):834-41.
1998: R G Grundy; Jon Pritchard; Peter J Scambler; John Kenneth Cowell
Loss of heterozygosity for the short arm of chromosome 7 in sporadic Wilms tumour.
Oncogene 1998;17(3):395-400.
1998: Deborah J Shears; H J Vassal; Frances R Goodman; R W Palmer; William Reardon; andrea superti-furga; Peter J Scambler; Robin M Winter
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.
Nature genetics 1998;19(1):70-3.
1998: Barbara Klamt; Ania Koziell; Francis Poulat; P Wieacker; Peter J Scambler; Philippe Berta; Manfred Gessler
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
Human molecular genetics 1998;7(4):709-14.
1998: Elizabeth Lindsay; E L Harvey; Peter J Scambler; Antonio Baldini
ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene.
Human molecular genetics 1998;7(4):629-35.
1997: J M McKie; H F Sutherland; E Harvey; U J Kim; Peter J Scambler
A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11.
Human genetics 1997;101(1):6-12.
1997: AK Ryan; Judith A Goodship; David I Wilson; N Philip; A Levy; Heide Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; Marguerite Prieur; A Aurias; F L Raymond; Jill Clayton-Smith; E Hatchwell; Carole M E McKeown; F A Beemer; B Dallapiccola; G Novelli; Jane A Hurst; Jaakko Ignatius; A J Green; Robin M Winter; Louise A Brueton; K Brøndum-Nielsen; Peter J Scambler
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
Journal of medical genetics 1997;34(10):798-804.
1997: C Carlson; H Sirotkin; RK Pandita; R Goldberg; J McKie; R Wadey; S R Patanjali; SM Weissman; K Anyane-Yeboa; D Warburton; Peter J Scambler; Robert J Shprintzen; Raju Kucherlapati; Bernice E Morrow
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
American journal of human genetics 1997;61(3):620-9.
1997: Frances R Goodman; Stefan Mundlos; Y Muragaki; Dian Donnai; Maria Luisa Giovannucci Uzielli; Elisabetta Lapi; Frank Majewski; Julie McGaughran; Carole M E McKeown; William Reardon; J Upton; Robin M Winter; B R Olsen; Peter J Scambler
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(14):7458-63.
1997: H O'Donnell; C McKeown; C Gould; Bernice E Morrow; Peter J Scambler
Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region.
American journal of human genetics 1997;60(6):1544-8.
1997: C Taylor; R Wadey; H O'Donnell; Catherine Roberts; M G Mattei; Wendy Kimber; Anthony Wynshaw-Boris; Peter J Scambler
Cloning and mapping of murine Dgcr2 and its homology to the Sez-12 seizure-related protein.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(5):371-5.
1997: H Sirotkin; H O'Donnell; R DasGupta; Stephanie Halford; B St Jore; Anne Puech; Satish Parimoo; Bernice E Morrow; Arthur I Skoultchi; SM Weissman; Peter J Scambler; Raju Kucherlapati
Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome.
Genomics 1997;41(1):75-83.
1997: Jill Dixon; S J Edwards; I Anderson; Andrew Brass; Peter J Scambler; Michael J Dixon
Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
Genome research 1997;7(3):223-34.
1997: Catherine Roberts; SC Daw; Stephanie Halford; Peter J Scambler
Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome.
Human molecular genetics 1997;6(2):237-45.
1996: P Rizzu; Elizabeth Lindsay; C Taylor; H O'Donnell; A Levy; Peter J Scambler; Antonio Baldini
Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans.
Mammalian genome : official journal of the International Mammalian Genome Society 1996;7(9):639-43.
1996: S C Daw; C Taylor; M Kraman; K Call; J Mao; S Schuffenhauer; Thomas Meitinger; T Lipson; Judith A Goodship; Peter J Scambler
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes.
Nature genetics 1996;13(4):458-60.
1996: H F Sutherland; R Wadey; J M McKie; C Taylor; U Atif; K A Johnstone; Stephanie Halford; UJ Kim; Judith A Goodship; Antonio Baldini; Peter J Scambler
Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.
American journal of human genetics 1996;59(1):23-31.
1996: Antonio Pizzuti; Giuseppe Novelli; A Mari; Antonia Ratti; A Colosimo; Francesca Amati; D Penso; Federica Sangiuolo; Giuseppe Calabrese; Giandomenico Palka; Vincenzo Silani; Massimo Gennarelli; Rita Mingarelli; Guglielmo Scarlato; Peter J Scambler; Bruno Dallapiccola
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome.
American journal of human genetics 1996;58(4):722-9.
1996: Elizabeth Lindsay; P Rizzu; Rachele Antonacci; V Jurecic; J Delmas-Mata; Cheng Chi Lee; UJ Kim; Peter J Scambler; Antonio Baldini
A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart.
Genomics 1996;32(1):104-12.
1996: J McKie; Peter J Scambler
The Nfe2l1 gene maps to distal mouse chromosome 11.
Mammalian genome : official journal of the International Mammalian Genome Society 1996;7(1):89.
1996: J Hoyle; I G Yulug; K Johnstone; Peter J Scambler; Elizabeth M C Fisher
Characterisation of a short interspersed repeat (Mermaid) that has family members on human chromosome 21 and elsewhere in the human genome.
Human genetics 1996;97(1):117-20.
1995: Judith A Goodship; I Cross; Peter J Scambler; John Burn
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.
Journal of medical genetics 1995;32(9):746-8.
1995: Bernice E Morrow; R Goldberg; C Carlson; R Das Gupta; H Sirotkin; J Collins; I Dunham; H O'Donnell; Peter J Scambler; Robert J Shprintzen
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.
American journal of human genetics 1995;56(6):1391-403.
1995: Elizabeth Lindsay; F Greenberg; Lisa Shaffer; Stuart K Shapira; Peter J Scambler; Antonio Baldini
Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.
American journal of medical genetics 1995;56(2):191-7.
1995: J McKie; K Johnstone; M G Mattei; Peter J Scambler
Cloning and mapping of murine Nfe2l1.
Genomics 1995;25(3):716-9.
1995: Salvatore Melchionda; Maria Cristina Digilio; Rita Mingarelli; Giuseppe Novelli; Peter J Scambler; B Marino; Bruno Dallapiccola
Transposition of the great arteries associated with deletion of chromosome 22q11.
The American journal of cardiology 1995;75(1):95-8.
1995: Stephanie Halford; M G Mattei; S Daw; Peter J Scambler
A novel C2H2 zinc-finger protein gene (ZNF160) maps to human chromosome 19q13.3-q13.4.
Genomics 1995;25(1):322-3.
1994: M G Mattei; Stephanie Halford; Peter J Scambler
Mapping of the Tuple1 gene to mouse chromosome 16A-B1.
Genomics 1994;23(3):717-8.
1993: David I Wilson; John Burn; Peter J Scambler; Judith A Goodship
DiGeorge syndrome: part of CATCH 22.
Journal of medical genetics 1993;30(10):852-6.
1993: S E Holder; Robin M Winter; S Kamath; Peter J Scambler
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.
Journal of medical genetics 1993;30(10):825-7.
1993: John Burn; A Takao; D Wilson; I Cross; K Momma; R Wadey; Peter J Scambler; Judith A Goodship
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.
Journal of medical genetics 1993;30(10):822-4.
1993: R Wadey; S Daw; A Wickremasinghe; Catherine Roberts; D Wilson; Judith A Goodship; John Burn; Stephanie Halford; Peter J Scambler
Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).
Journal of medical genetics 1993;30(10):818-21.
1993: Elizabeth Lindsay; Stephanie Halford; R Wadey; Peter J Scambler; Antonio Baldini
Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.
Genomics 1993;17(2):403-7.
1993: Peter J Scambler
Deletions of human chromosome 22 and associated birth defects.
Current opinion in genetics & development 1993;3(3):432-7.
1993: Stephanie Halford; Elizabeth Lindsay; M Nayudu; A H Carey; Antonio Baldini; Peter J Scambler
Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.
Human molecular genetics 1993;2(2):191-6.
1993: David I Wilson; S B Britton; C McKeown; D Kelly; I E Cross; Stephan Strobel; Peter J Scambler
Noonan's and DiGeorge syndromes with monosomy 22q11.
Archives of disease in childhood 1993;68(2):187-9.
1993: C Desmaze; Peter J Scambler; Marguerite Prieur; Stephanie Halford; D Sidi; F Le Deist; Alain Aurias
Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.
Human genetics 1993;90(6):663-5.
1993: D Kelly; R Goldberg; D Wilson; Elizabeth Lindsay; A Carey; Judith A Goodship; John Burn; I Cross; Robert J Shprintzen; Peter J Scambler
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.
American journal of medical genetics 1993;45(3):308-12.
1992: I Dunham; J Collins; R Wadey; Peter J Scambler
Possible role for COMT in psychosis associated with velo-cardio-facial syndrome.
Lancet 1992;340(8831):1361-2.
1992: David I Wilson; I E Cross; Judith A Goodship; J Brown; Peter J Scambler; H H Bain; J F Taylor; K Walsh; A Bankier; John Burn
A prospective cytogenetic study of 36 cases of DiGeorge syndrome.
American journal of human genetics 1992;51(5):957-63.
1992: David I Wilson; Judith A Goodship; John Burn; I E Cross; Peter J Scambler
Deletions within chromosome 22q11 in familial congenital heart disease.
Lancet 1992;340(8819):573-5.
1992: Peter J Scambler; D Kelly; Elizabeth Lindsay; R Williamson; R Goldberg; Robert J Shprintzen; David I Wilson; Judith A Goodship; I E Cross; John Burn
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.
Lancet 1992;339(8802):1138-9.
1992: A H Carey; Uwe Claussen; Hermann-Josef Lüdecke; B Horsthemke; D Ellis; H Oakey; D Wilson; John Burn; R Williamson; Peter J Scambler
Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(2):101-5.
1991: David I Wilson; I E Cross; Judith A Goodship; S Coulthard; A H Carey; Peter J Scambler; H H Bain; A S Hunter; P E Carter; John Burn
DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.
British heart journal 1991;66(4):308-12.
1991: F Tata; Philip Stanier; Carol Wicking; Stephanie Halford; Helena Kruyer; NJ Lench; Peter J Scambler; C Hansen; Jeffrey Carl Braman; R Williamson
Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.
Genomics 1991;10(2):301-7.
1991: Peter J Scambler; A H Carey; R K Wyse; S Roach; Jan P Dumanski; M Nordenskjold; R Williamson
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.
Genomics 1991;10(1):201-6.
1990: A H Carey; S Roach; R Williamson; Jan P Dumanski; M Nordenskjold; V Peter Collins; G Rouleau; N Blin; P Jalbert; Peter J Scambler
Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome.
Genomics 1990;7(3):299-306.
1990: Peter J Scambler; Brandon J Wainwright; M Ramsay; M Farrall; G Bates; M F Ho; C Cooper
Analysis of the transgenome of MET transfectant cell lines reveals that MET activation is accompanied by an interstitial insertion.
Human genetics 1990;84(3):274-8.
1989: Peter J Scambler
The cystic fibrosis gene.
Archives of disease in childhood 1989;64(12):1647-8.
1989: M Ramsay; H Sutherland; R Williamson; Peter J Scambler
Probe pJ1 [D7S402] detects a MspI RFLP on chromosome 7q31-32.
Nucleic acids research 1989;17(4):1793.
1988: NJ Lench; Peter J Scambler
An anonymous DNA probe (NL32) recognises a MspI polymorphism on human chromosome 1 [D1S84].
Nucleic acids research 1988;16(24):11854.
1988: Brandon J Wainwright; Peter J Scambler; Philip Stanier; E K Watson; G Bell; Carol Wicking; X Estivill; M Courtney; A Boue; P S Pedersen
Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless.
The EMBO journal 1988;7(6):1743-8.
1987: X Estivill; Peter J Scambler; Brandon J Wainwright; K Hawley; P Frederick; M Schwartz; M Baiget; J Kere; R Williamson; M Farrall
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis.
Genomics 1987;1(3):257-63.
1987: Peter J Scambler; NJ Lench
RFLP for C2/11 (D7S374), a cosmid for chromosome seven.
Nucleic acids research 1987;15(19):8121.
1987: T P Robbins; Peter J Scambler; K E Davies; R Williamson
An anonymous clone E9pl (D4S112) localised to 4q26-qter detects an Msp I RFLP.
Nucleic acids research 1987;15(19):8122.
1987: Peter J Scambler; Margaret A McPherson; G Bates; N A Bradbury; Robert L Dormer; R Williamson
Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystic fibrosis.
Human genetics 1987;76(3):278-82.
1987: Peter J Scambler; X Estivill; G Bell; M Farrall; C McLean; R Newman; P F Little; P Frederick; K Hawley; Brandon J Wainwright
Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus.
Nucleic acids research 1987;15(9):3639-52.
1987: X Estivill; M Farrall; Peter J Scambler; G M Bell; K M Hawley; NJ Lench; G P Bates; Helena Kruyer; P A Frederick; Philip Stanier
A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.
Nature 1987;326(6116):840-5.
1987: B J Wainwright; Peter J Scambler; R Williamson
Regional localization of three probes closely linked to the cystic fibrosis locus by deletion analysis.
Cytogenetics and cell genetics 1987;44(2-3):101-2.
1987: V J Buckle; Peter J Scambler; B J Wainwright
Localisation of a sequence, 7C22, showing close linkage to the cystic fibrosis locus.
Cytogenetics and cell genetics 1987;44(1):41-2.
1986: Peter J Scambler; H Y Law; R Williamson; C S Cooper
Chromosome mediated gene transfer of six DNA markers linked to the cystic fibrosis locus on human chromosome seven.
Nucleic acids research 1986;14(18):7159-74.
1986: Peter J Scambler; B J Wainwright; Ross T A MacGillivray; M R Fung; R Williamson
Exclusion of human chromosome 13q34 as the site of the cystic fibrosis mutation.
American journal of human genetics 1986;38(4):567-72.
1986: Peter J Scambler; Brandon J Wainwright; E Watson; G Bates; G Bell; R Williamson; M Farrall
Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis.
Nucleic acids research 1986;14(5):1951-6.
1986: Peter J Scambler; G Bell; E Watson; M Farrall; G Bates; K Davies; NJ Lench; A Ashworth; R Williamson; P Tippett
Cystic fibrosis linkage exclusion data.
Cytogenetics and cell genetics 1986;41(1):62-3.
1985: Peter J Scambler; B J Wainwright; M Farrall; J Bell; Philip Stanier; NJ Lench; G Bell; Helena Kruyer; F Ramirez; R Williamson
Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications.
Lancet 1985;2(8466):1241-2.
1985: B J Wainwright; Peter J Scambler; J Schmidtke; E A Watson; H Y Law; M Farrall; H J Cooke; H Eiberg; R Williamson
Localization of cystic fibrosis locus to human chromosome 7cen-q22.
Nature 1985;318(6044):384-5.
1985: Peter J Scambler; R Lord; G Bates; R Williamson
RFLP for D4S12, an anonymous single copy genomic clone at 4pter-4q26 [HGM8 provisional no. D4S12].
Nucleic acids research 1985;13(8):3016.