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David Ledbetter

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Annalisa Vetro; Orsetta Zuffardi; Joris R Vermeesch; Katelijne Bouman; Ros Hastings; David Ledbetter; Dominic J McMullan; Konstantin Miller; Birgit Sikkema-Raddatz; Conny M A van Ravenswaaij-Arts
The introduction of arrays in prenatal diagnosis: a special challenge.
E R Riggs; S T South; Erik C Thorland; K E Wain; E S Williams; Swaroop Aradhya; D M Church; K Hanson; Victoria Horner; E B Kaminsky; Hutton M Kearney; R M Kuhn; David Ledbetter; Christa Lese Martin
Towards an evidence-based process for the clinical interpretation of copy number variation.
Andres Moreno-De-Luca; David Ledbetter; Christa Lese Martin
Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.

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All Publications

2012: Annalisa Vetro; Orsetta Zuffardi; Joris R Vermeesch; Katelijne Bouman; Ros Hastings; David Ledbetter; Dominic J McMullan; Konstantin Miller; Birgit Sikkema-Raddatz; Conny M A van Ravenswaaij-Arts
The introduction of arrays in prenatal diagnosis: a special challenge.
Human mutation 2012;33(6):923-9.
2012: E R Riggs; S T South; Erik C Thorland; K E Wain; E S Williams; Swaroop Aradhya; D M Church; K Hanson; Victoria Horner; E B Kaminsky; Hutton M Kearney; R M Kuhn; David Ledbetter; Christa Lese Martin
Towards an evidence-based process for the clinical interpretation of copy number variation.
Clinical genetics 2012;81(5):403-12.
2012: Andres Moreno-De-Luca; David Ledbetter; Christa Lese Martin
Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.
Lancet neurology 2012;11(3):283-92.
2012: David W Evans; Jennifer Gerard; Kathleen Janosco; Steven M Lazar; David Ledbetter; Patrick T Orr; Daniel Breton; Jessica Dotts; Holly Batchelder
Human preferences for symmetry: subjective experience, cognitive conflict and cortical brain activity.
PloS one 2012;7(6):e38966.
2011: Yue Luo; Christa Lese Martin; Jennifer Gladys Mulle; Blake C Ballif; Jannine Cody; Anne Dodd; Karen E Hermetz; Jodi M Jackson; David Ledbetter; Lisa G Shaffer; Karen D Tsuchiya; M Katharine Rudd
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
Human molecular genetics 2011;20(19):3769-78.
2011: Erin B Kaminsky; Vineith Kaul; Dawn Kunig; David Ledbetter; Todd Ackley; Swaroop Aradhya; Emily Aston; Sarah J Beal; Arthur R Brothman; Brian Bunke; Deanna M Church; Morag N Collinson; John G Compton; John A Crolla; Amy E Fuller; Troy J Gliem; Denae M Golden; Shuwen Huang; Ramaswamy K Iyer; Andres Moreno-De-Luca; Daniel Moreno-De-Luca; Jennifer Gladys Mulle; Justin Paschall; Diane L Pickering; Gabriele Richard; Michael R Rossi; M Katharine Rudd; Warren G Sanger; Shashirekha Shetty; Sarah T South; Erik C Thorland; Stephen Warren; Heidi Whitby; Christa Lese Martin
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(9):777-84.
2011: Stephan Sanders; Chad A Shaw; Michael Sheldon; Youeun Song; James S Sutcliffe; Susanne A Thomson; Jay A Tischfield; Christopher Walsh; Qi Wang; Brian L Yaspan; Timothy W Yu; Ilana R Yurkiewicz; Nicole R Davis Wright; Arthur L Beaudet; Kaya Bilguvar; Andrew I Brooks; Rita M Cantor; Patricia B S Celestino-Soper; Murim Choi; Su H Chu; Edwin H Cook; Emily L Crawford; Martin Curland; Lea Davis; Bernie Devlin; Rahul M Dhodapkar; Michael DiCola; Nicholas M DiLullo; A Gulhan Ercan-Sencicek; Thomas V Fernandez; Vikram Fielding-Singh; Daniel O Fishman; Eric Fombonne; Stephanie Frahm; Rouben Garagaloyan; Daniel Geschwind; Gerald S Goh; Dorothy E Grice; Murat Günel; Abha R Gupta; Vanessa Hus; Sindhuja Kammela; Lambertus Klei; David Ledbetter; Richard P Lifton; Catherine Lord; Jennifer K Lowe; Sabata C Lund; Rui Luo; Shrikant M Mane; Christa Lese Martin; Donna M Martin; Christopher E Mason; Anna D McGrew; Kyle A Meyer; William J Moffat; Michael P Moreau; Daniel Moreno-De-Luca; Eric M Morrow; John D Murdoch; Michael T Murtha; Gordon T Ober; Brian J O'Roak; Rebecca S Pottenger; Melanie J Raubeson; Kathryn Roeder; Sate Matthew
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Neuron 2011;70(5):863-85.
2011: Andres Moreno-De-Luca; Sandra L Helmers; Hui Mao; Thomas G Burns; Amanda M A Melton; Karen R Schmidt; Paul M FERNHOFF; David Ledbetter; Christa Lese Martin
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
Journal of medical genetics 2011;48(2):141-4.
2010: Daniel Moreno-De-Luca; Jennifer Gladys Mulle; Erin B Kaminsky; Stephan Sanders; Scott M Myers; Margaret P Adam; Amy T Pakula; Nancy J Eisenhauer; Kim Uhas; LuAnn Weik; Lisa Guy; Melanie E Care; Chantal F Morel; Charlotte Boni; Bonnie Anne Salbert; ashadeep chandrareddy; Laurie A Demmer; Eva W C Chow; Urvashi Surti; Swaroop Aradhya; Diane L Pickering; Denae M Golden; Warren G Sanger; Emily Aston; Arthur R Brothman; Troy J Gliem; Erik C Thorland; Todd Ackley; Ram Iyer; Shuwen Huang; John C Barber; John A Crolla; Stephen Warren; Christa Lese Martin; David Ledbetter
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
American journal of human genetics 2010;87(5):618-30.
2010: David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David Ledbetter
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
American journal of human genetics 2010;86(5):749-64.
2009: M Katharine Rudd; Julia Keene; Brian Bunke; Erin B Kaminsky; Margaret P Adam; Jennifer Gladys Mulle; David Ledbetter; Christa Lese Martin
Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
Human molecular genetics 2009;18(16):2957-62.
2009: David Ledbetter
"New microdeletion syndromes: complex, but no new paradigms".
Journal of medical genetics 2009;46(8):576.
2009: David Ledbetter
Chaos in the embryo.
Nature medicine 2009;15(5):490-1.
2008: David Ledbetter
Cytogenetic technology--genotype and phenotype.
The New England journal of medicine 2008;359(16):1728-30.
2008: Bruce Korf; David Ledbetter; Michael F Murray
Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(7):502-7.
2008: Erin L Baldwin; Ji-Yun Lee; Douglas M Blake; Brian P Bunke; Chad R Alexander; Amy L Kogan; David Ledbetter; Christa Lese Martin
Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(6):415-29.
2008: Soma Das; Sherri J Bale; David Ledbetter
Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(5):332-6.
2008: David Ledbetter
Gene patenting and licensing: the role of academic researchers and advocacy groups.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(5):314-9.
2008: David Ledbetter; W Andrew Faucett
Issues in genetic testing for ultra-rare diseases: background and introduction.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(5):309-13.
2008: Erin L Baldwin; Lorraine F May; April N Justice; Christa Lese Martin; David Ledbetter
Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.
American journal of human genetics 2008;82(2):398-410.
2008: Daniela Bettio; Erin L Baldwin; Romeo Carrozzo; Aglaia Vignoli; Lorraine May; Anna Venci; David Ledbetter
Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism.
American journal of medical genetics. Part A 2008;146A(2):247-50.
2008: Maricela Alarcón; Brett S. Abrahams; Jennifer L Stone; Jacqueline Duvall; Julia V Perederiy; Jamee M Bomar; Jonathan Sebat; Michael Wigler; Christa Lese Martin; David Ledbetter; Stanley F Nelson; Rita M Cantor; Daniel Geschwind
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
American journal of human genetics 2008;82(1):150-9.
2007: David Ledbetter; Christa Lese Martin
Cryptic telomere imbalance: a 15-year update.
American journal of medical genetics. Part C, Seminars in medical genetics 2007;145C(4):327-34.
2007: Christa Lese Martin; Zafar Nawaz; Erin L Baldwin; Elijah J Wallace; April N Justice; David Ledbetter
The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(9):566-73.
2007: Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel Geschwind; T Conrad Gilliam; Qian Ye; Michael Wigler
Strong association of de novo copy number mutations with autism.
Science (New York, N.Y.) 2007;316(5823):445-9.
2007: Christa Lese Martin; David Ledbetter
Autism and cytogenetic abnormalities: solving autism one chromosome at a time.
Current psychiatry reports 2007;9(2):141-7.
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.
2006: J. Britt Ravnan; James Tepperberg; Peter Papenhausen; A N Lamb; J Hedrick; D Eash; David Ledbetter; Christa Lese Martin
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.
Journal of medical genetics 2006;43(6):478-89.
2005: Hayley L Archer; S Gupta; S Enoch; Peter Thompson; Anthony W Rowbottom; I Chua; Stephen Warren; D Johnson; David Ledbetter; Christa Lese Martin; P Williams; Daniela T Pilz
Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.
American journal of medical genetics. Part A 2005;136(1):38-44.
2005: Andrew Wong; Christa Lese Martin; Konstantina Heretis; Teresa Ruffalo; Kim Wilber; Walter King; David Ledbetter
Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(4):264-71.
2005: Stephanie Mewborn; Christa Lese Martin; David Ledbetter
The dynamic nature and evolutionary history of subtelomeric and pericentromeric regions.
Cytogenetic and genome research 2005;108(1-3):22-5.
2004: Bing Huang; Christa Lese Martin; Constance J Sandlin; Shengbiao Wang; David Ledbetter
Mitotic and meiotic instability of a telomere association involving the Y chromosome.
American journal of medical genetics. Part A 2004;129A(2):120-3.
2004: Andrew Wong; Eric Vallender; Konstantina Heretis; Yesim Ilkin; Bruce T Lahn; Christa Lese Martin; David Ledbetter
Diverse fates of paralogs following segmental duplication of telomeric genes.
Genomics 2004;84(2):239-47.
2004: Anthony J Schaeffer; June Chung; Konstantina Heretis; Andrew Wong; David Ledbetter; Christa Lese Martin
Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages.
American journal of human genetics 2004;74(6):1168-74.
2003: Hirobumi Sugawara; Naoki Harada; Tomoko Ida; Takafumi Ishida; David Ledbetter; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23.
Genomics 2003;82(2):238-44.
2003: Melissa B Ramocki; James Dowling; Inessa Grinberg; Virginia E Kimonis; Carlos Cardoso; Alyssa Gross; June Chung; Christa Lese Martin; David Ledbetter; William B Dobyns; Kathleen J Millen
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
European journal of human genetics : EJHG 2003;11(7):527-34.
2003: Kazuhito Toyo-Oka; Aki Shionoya; Michael J Gambello; Carlos Cardoso; Richard J Leventer; Heather L Ward; Ramses Ayala; Li-Huei Tsai; William B Dobyns; David Ledbetter; Shinji Hirotsune; Anthony Wynshaw-Boris
14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
Nature genetics 2003;34(3):274-85.
2003: Carlos Cardoso; Richard J Leventer; Heather L Ward; Kazuhito Toyo-Oka; June Chung; Alyssa Gross; Christa Lese Martin; Judith E Allanson; Daniela T Pilz; Ann H Olney; Osvaldo M Mutchinick; Shinji Hirotsune; Anthony Wynshaw-Boris; William B Dobyns; David Ledbetter
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
American journal of human genetics 2003;72(4):918-30.
2002: Maria Daniela D'Agostino; Andrea Bernasconi; Soma Das; Alexandre Bastos; Rosa M Valerio; André Palmini; Jaderson Costa DaCosta; Ingrid E Scheffer; Samuel Berkovic; Renzo Guerrini; Charlotte Dravet; Jiro Ono; GianLuigi Gigli; Antonio Federico; Fran Booth; Bruno Bernardi; Lilia Volpi; Carlo Alberto Tassinari; Mary Anne Guggenheim; David Ledbetter; Joseph G Gleeson; Iscia Lopes-Cendes; David G Vossler; Elisabetta Malaspina; Emilio Franzoni; Roberto J Sartori; Michael H Mitchell; Suha Mercho; François Dubeau; Frederick Andermann; William B Dobyns; Eva Andermann
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Brain : a journal of neurology 2002;125(Pt 11):2507-22.
2002: Christa Lese Martin; Darrel J Waggoner; Andrew Wong; S Uhrig; Jessica A Roseberry; J F Hedrick; Svetlana D Pack; K Russell; E Zackai; William B Dobyns; David Ledbetter
"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Journal of medical genetics 2002;39(10):734-40.
2002: Laura B K Herzing; Edwin H Cook; David Ledbetter
Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications.
Human molecular genetics 2002;11(15):1707-18.
2002: Christa Lese Martin; Andrew Wong; Alyssa Gross; June Chung; Judy A Fantes; David Ledbetter
The evolutionary origin of human subtelomeric homologies--or where the ends begin.
American journal of human genetics 2002;70(4):972-84.
2002: Soo-Jeong Kim; Laura B K Herzing; Jeremy Veenstra-VanderWeele; Catherine Lord; Rachel Courchesne; Bennett L Leventhal; David Ledbetter; Eric Courchesne; Edwin H Cook
Mutation screening and transmission disequilibrium study of ATP10C in autism.
American journal of medical genetics 2002;114(2):137-43.
2002: Judy A Fantes; Stephanie Mewborn; CM Lese; J Hedrick; R L Brown; Vadim G Dyomin; Raju S K Chaganti; Susan L Christian; David Ledbetter
Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q.
Journal of medical genetics 2002;39(3):170-7.
2002: Carlos Cardoso; Richard J Leventer; James Dowling; Heather L Ward; June Chung; Kristin S Petras; Jessica A Roseberry; Ann M Weiss; Soma Das; Christa Lese Martin; Daniela T Pilz; William B Dobyns; David Ledbetter
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Human mutation 2002;19(1):4-15.
2001: Richard J Leventer; Carlos Cardoso; David Ledbetter; William B Dobyns
LIS1: from cortical malformation to essential protein of cellular dynamics.
Trends in neurosciences 2001;24(9):489-92.
2001: Richard J Leventer; Carlos Cardoso; David Ledbetter; William B Dobyns
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Neurology 2001;57(3):416-22.
2001: L Demelas; G Serra; M Conti; A Achene; C Mastropaolo; N Matsumoto; LL Dudlicek; PL Mills; William B Dobyns; David Ledbetter; S Das
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
Neurology 2001;57(2):327-30.
2001: Laura B K Herzing; Soo-Jeong Kim; Edwin H Cook; David Ledbetter
The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.
American journal of human genetics 2001;68(6):1501-5.
2001: CM Lese; David Ledbetter
Molecular cytogenetic analysis of telomere rearrangements.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2001;Chapter 8():Unit 8.11.
2001: Lisa Shaffer; N Agan; J D Goldberg; David Ledbetter; J W Longshore; S B Cassidy
American College of Medical Genetics statement of diagnostic testing for uniparental disomy.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(3):206-11.
2001: Sabrina Giglio; Karl W Broman; N Matsumoto; Vladimiro Calvari; Giorgio Gimelli; T Neumann; H Ohashi; L Voullaire; D Larizza; Roberto Giorda; James L Weber; David Ledbetter; Orsetta Zuffardi
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
American journal of human genetics 2001;68(4):874-83.
2001: I Simonic; D R Nyholt; GS Gericke; D Gordon; N Matsumoto; David Ledbetter; J Ott; J L Weber
Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners.
American journal of medical genetics 2001;105(2):163-7.
2001: N Matsumoto; Richard J Leventer; JA Kuc; Stephanie Mewborn; LL Dudlicek; Melissa B Ramocki; Daniela T Pilz; PL Mills; Soma Das; M Elizabeth Ross; David Ledbetter; William B Dobyns
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
European journal of human genetics : EJHG 2001;9(1):5-12.
2001: P Ungaro; Susan L Christian; Judy A Fantes; Apiwat Mutirangura; S Black; J Reynolds; S Malcolm; William B Dobyns; David Ledbetter
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
Journal of medical genetics 2001;38(1):26-34.
2000: Carlos Cardoso; Richard J Leventer; N Matsumoto; JA Kuc; Melissa B Ramocki; Stephanie Mewborn; LL Dudlicek; L F May; PL Mills; Soma Das; Daniela T Pilz; William B Dobyns; David Ledbetter
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Human molecular genetics 2000;9(20):3019-28.
2000: Soma Das; CM Lese; M Song; J L Jensen; L A Wells; B L Barnoski; Jessica A Roseberry; J M Camacho; David Ledbetter; R E Schnur
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.
American journal of human genetics 2000;67(6):1586-91.
2000: N Matsumoto; D E David; E W Johnson; D Konecki; James K Burmester; David Ledbetter; James L Weber
Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome.
European journal of human genetics : EJHG 2000;8(11):875-83.
2000: Samantha J L Knight; CM Lese; KS Precht; JA Kuc; Yi Ning; S Lucas; Regina Regan; M Brenan; A Nicod; N M Lawrie; D L Cardy; H Nguyen; T J Hudson; H C Riethman; David Ledbetter; Jonathan Flint
An optimized set of human telomere clones for studying telomere integrity and architecture.
American journal of human genetics 2000;67(2):320-32.
2000: Richard J Leventer; Daniela T Pilz; N Matsumoto; David Ledbetter; William B Dobyns
Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Molecular medicine today 2000;6(7):277-84.
2000: Wendy P Robinson; SL Christian; Brian Kuchinka; Maria S Peñaherrera; S Das; S Schuffenhauer; Sue Malcolm; Albert Schinzel; T J Hassold; David Ledbetter
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.
Clinical genetics 2000;57(5):349-58.
2000: D Kennedy; MM Silver; Elizabeth J T Winsor; Ants Toi; J Provias; ME Macha; KS Precht; David Ledbetter; David Chitayat
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.
American journal of medical genetics 2000;91(3):167-70.
1999: P D Storto; T N Diehn; D P O'Malley; B A Bullard; M L Netzloff; D L VanDyke; Gerald L Feldman; KS Precht; David Ledbetter; CM Lese
Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent.
Prenatal diagnosis 1999;19(11):1088-9.
1999: RP Spiro; Susan L Christian; David Ledbetter; M I New; R C Wilson; Nancy Roizen; Robert L Rosenfield
Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia.
Pediatric research 1999;46(5):510-3.
1999: CM Lese; Judy A Fantes; H C Riethman; David Ledbetter
Characterization of physical gap sizes at human telomeres.
Genome research 1999;9(9):888-94.
1999: Daniela T Pilz; JA Kuc; N Matsumoto; J Bodurtha; B Bernadi; C A Tassinari; William B Dobyns; David Ledbetter
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
Human molecular genetics 1999;8(9):1757-60.
1999: Toni I Pollin; W B Dobyns; C A Crowe; David Ledbetter; J E Bailey-Wilson; A C Smith
Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.
American journal of medical genetics 1999;85(4):369-75.
1999: William B Dobyns; C L Truwit; M Elizabeth Ross; N Matsumoto; Daniela T Pilz; David Ledbetter; Joseph G Gleeson; Christopher Walsh; A J Barkovich
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Neurology 1999;53(2):270-7.
1999: N Matsumoto; David Ledbetter
Molecular cloning and characterization of the human NUDC gene.
Human genetics 1999;104(6):498-504.
1999: Susan L Christian; Judy A Fantes; Stephanie Mewborn; B Huang; David Ledbetter
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
Human molecular genetics 1999;8(6):1025-37.
1999: N Matsumoto; Daniela T Pilz; David Ledbetter
Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS).
Genomics 1999;56(2):179-83.
1999: Ping Fang; E Lev-Lehman; Ting-Fen Tsai; Tohru Matsuura; C S Benton; James S Sutcliffe; Susan L Christian; T Kubota; D J Halley; Hanne Meijers-Heijboer; S Langlois; J M Graham; J Beuten; P J Willems; David Ledbetter; Arthur L Beaudet
The spectrum of mutations in UBE3A causing Angelman syndrome.
Human molecular genetics 1999;8(1):129-35.
1999: Susan L Christian; Barry H Rich; C Loebl; J Israel; R Vasa; K Kittikamron; RP Spiro; Robert L Rosenfield; David Ledbetter
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus.
The Journal of pediatrics 1999;134(1):42-6.
1998: Daniela T Pilz; N Matsumoto; Sharon Minnerath; P Mills; Joseph G Gleeson; Kristina M Allen; Christopher Walsh; A J Barkovich; William B Dobyns; David Ledbetter; M Elizabeth Ross
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Human molecular genetics 1998;7(13):2029-37.
1998: Daniela T Pilz; ME Macha; KS Precht; A C Smith; William B Dobyns; David Ledbetter
Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.
Genetics in medicine : official journal of the American College of Medical Genetics 1998;1(1):29-33.
1998: KS Precht; CM Lese; RP Spiro; Peter R Huttenlocher; K M Johnston; J C Baker; Susan L Christian; K Kittikamron; David Ledbetter
Two 22q telomere deletions serendipitously detected by FISH.
Journal of medical genetics 1998;35(11):939-42.
1998: J E Allanson; David Ledbetter; W B Dobyns
Classical lissencephaly syndromes: does the face reflect the brain?
Journal of medical genetics 1998;35(11):920-3.
1998: N Matsumoto; Daniela T Pilz; Judy A Fantes; K Kittikamron; David Ledbetter
Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.
Journal of medical genetics 1998;35(10):829-32.
1998: Maria Paola Canevini; V Sgro; Orsetta Zuffardi; Raffaele Canger; R Carrozzo; E Rossi; David Ledbetter; F Minicucci; Aglaia Vignoli; Ada Piazzini; L Guidolin; A Saltarelli; Bernardo Dalla Bernardina
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.
Epilepsia 1998;39(9):942-51.
1998: Shinji Hirotsune; MW Fleck; Michael J Gambello; GJ Bix; Amy Chen; Gary D Clark; David Ledbetter; Chris J McBain; Anthony Wynshaw-Boris
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality.
Nature genetics 1998;19(4):333-9.
1998: J Jacobsen; Bryan H King; Bennett L Leventhal; Susan L Christian; David Ledbetter; Edwin H Cook
Molecular screening for proximal 15q abnormalities in a mentally retarded population.
Journal of medical genetics 1998;35(7):534-8.
1998: Wendy P Robinson; Brian Kuchinka; F Bernasconi; Michael B Petersen; A Schulze; karen brondum-nielsen; SL Christian; David Ledbetter; Albert Schinzel; B Horsthemke; S Schuffenhauer; R C Michaelis; Sylvie Langlois; T J Hassold
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.
Human molecular genetics 1998;7(6):1011-9.
1998: C Lo Nigro; T Venesio; Alexandre Reymond; Germana Meroni; P Alberici; Silvia Cainarca; F Enrico; M Stack; David Ledbetter; D S Liscia; Andrea Ballabio; Rosalba Carrozzo
The human ROX gene: genomic structure and mutation analysis in human breast tumors.
Genomics 1998;49(2):275-82.
1998: Susan L Christian; N K Bhatt; S A Martin; James S Sutcliffe; T Kubota; B Huang; A Mutirangura; A C Chinault; Arthur L Beaudet; David Ledbetter
Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.
Genome research 1998;8(2):146-57.
1998: Elisabeth P Nacheva; Colin Grace; Michael Bittner; David Ledbetter; R B Jenkins; Anthony R Green
Comparative genomic hybridization: a comparison with molecular and cytogenetic analysis.
Cancer genetics and cytogenetics 1998;100(2):93-105.
1998: J R Batanian; David Ledbetter; R G Fenwick
A simple VNTR-PCR method for detecting maternal cell contamination in prenatal diagnosis.
Genetic testing 1998;2(4):347-50.
1998: Svetlana D Pack; Evgenia Pak; Akira Tanigami; David Ledbetter; M N Fukuda
Assignment1 of the bystin gene BYSL to human chromosome band 6p21.1 by in situ hybridization.
Cytogenetics and cell genetics 1998;83(1-2):76-7.
1997: James S Sutcliffe; M Han; Susan L Christian; David Ledbetter
Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome.
Lancet 1997;350(9090):1520-1.
1997: R Carrozzo; E Rossi; Susan L Christian; K Kittikamron; C Livieri; Andrea Corrias; Lucia Pucci; Alberto Fois; P Simi; Laura Bosio; Luciano Beccaria; Orsetta Zuffardi; David Ledbetter
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.
American journal of human genetics 1997;61(1):228-31.
1997: Shinji Hirotsune; Svetlana D Pack; Samuel S Chong; C M Robbins; william pavan; David Ledbetter; Anthony Wynshaw-Boris
Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.
Genome research 1997;7(6):625-34.
1997: Germana Meroni; Alexandre Reymond; M Alcalay; Giuseppe Borsani; A Tanigami; R Tonlorenzi; C Lo Nigro; Silvia Messali; Massimo Zollo; David Ledbetter; R Brent; Andrea Ballabio; Rosalba Carrozzo
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.
The EMBO journal 1997;16(10):2892-906.
1997: T Kubota; S Das; S L Christian; Stephen B Baylin; James G Herman; David Ledbetter
Methylation-specific PCR simplifies imprinting analysis.
Nature genetics 1997;16(1):16-7.
1997: James S Sutcliffe; Yong-Hui Jiang; R J Galijaard; Tohru Matsuura; Ping Fang; T Kubota; Susan L Christian; Jan Bressler; Bruce M Cattanach; David Ledbetter; Arthur L Beaudet
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.
Genome research 1997;7(4):368-77.
1997: M Elizabeth Ross; Kristina M Allen; A K Srivastava; T Featherstone; Joseph G Gleeson; B Hirsch; B N Harding; Eva Andermann; R Abdullah; M Berg; D Czapansky-Bielman; D J Flanders; Renzo Guerrini; J Motté; A P Mira; IE Scheffer; SF Berkovic; F Scaravilli; R A King; David Ledbetter; David Schlessinger; William B Dobyns; Christopher Walsh
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Human molecular genetics 1997;6(4):555-62.
1997: Cristiana Lo Nigro; C S Chong; A C Smith; W B Dobyns; Rosalba Carrozzo; David Ledbetter
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Human molecular genetics 1997;6(2):157-64.
1997: Samuel S Chong; Svetlana D Pack; A V Roschke; Akira Tanigami; R Carrozzo; A C Smith; W B Dobyns; David Ledbetter
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Human molecular genetics 1997;6(2):147-55.
1997: Soma Das; T Kubota; M Song; R Daniel; E M Berry-Kravis; T W Prior; Bradley W Popovich; L Rosser; T Arinami; David Ledbetter
Methylation analysis of the fragile X syndrome by PCR.
Genetic testing 1997;1(3):151-5.
1997: Svetlana D Pack; Akira Tanigami; David Ledbetter; T Sato; M N Fukuda
Assignment of trophoblast/endometrial epithelium cell adhesion molecule trophinin gene TRO to human chromosome bands Xp11.22-->p11.21 by in situ hybridization.
Cytogenetics and cell genetics 1997;79(1-2):123-4.
1997: B Huang; J A Crolla; S L Christian; M E Wolf-Ledbetter; ME Macha; P N Papenhausen; David Ledbetter
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes.
Human genetics 1997;99(1):11-7.
1997: Leena Haataja; C Raffel; David Ledbetter; A Tanigami; D Petersen; Nora Heisterkamp; John Groffen
Deletion within the D17S34 locus in a primitive neuroectodermal tumor.
Cancer research 1997;57(1):32-4.
1997: A C C Wong; Yi Ning; J Flint; K Clark; J P Dumanski; David Ledbetter; Heather E McDermid
Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.
American journal of human genetics 1997;60(1):113-20.
1996: Vijay S Tonk; Roger A Schultz; S L Christian; T Kubota; David Ledbetter; Golder N Wilson
Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy.
American journal of medical genetics 1996;66(4):426-8.
1996: T Kubota; James S Sutcliffe; S Aradhya; G Gillessen-Kaesbach; Susan L Christian; Bernhard Horsthemke; Arthur L Beaudet; David Ledbetter
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
American journal of medical genetics 1996;66(1):77-80.
1996: T Kubota; S Aradhya; M Macha; A C Smith; L C Surh; J Satish; M S Verp; H L Nee; A Johnson; S L Christan; David Ledbetter
Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.
Journal of medical genetics 1996;33(12):1011-4.
1996: K J Paulyson; DM Sherer; S L Christian; Kerry M Lewis; David Ledbetter; Carolyn M Salafia; Jeanne M Meck
Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin.
Prenatal diagnosis 1996;16(11):1021-6.
1996: Merlin G Butler; S L Christian; T Kubota; David Ledbetter
A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.
American journal of medical genetics 1996;65(2):137-41.
1996: Wendy P Robinson; Sylvie Langlois; S Schuffenhauer; Bernhard Horsthemke; R C Michaelis; Susan L Christian; David Ledbetter; Albert Schinzel
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.
Prenatal diagnosis 1996;16(9):837-44.
1996: Yi Ning; A Roschke; Susan L Christian; J Lesser; James S Sutcliffe; David Ledbetter
Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region.
Genome research 1996;6(8):742-6.
1996: Samuel S Chong; Akira Tanigami; A V Roschke; David Ledbetter
14-3-3 epsilon has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region.
Genome research 1996;6(8):735-41.
1996: Geraldine A McDowell; T Isogai; Akira Tanigami; S Hazelwood; David Ledbetter; Mihael H Polymeropoulos; U Lichter-Konecki; DS Konecki; M M Town; W V Van't Hoff; Jean Weissenbach; William A Gahl
Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13.
Biochemical and molecular medicine 1996;58(2):135-41.
1996: William B Dobyns; E Andermann; Frederick Andermann; D Czapansky-Beilman; F Dubeau; Olivier Dulac; R Guerrini; B Hirsch; David Ledbetter; N S Lee; J Motte; J M Pinard; R A Radtke; M Elizabeth Ross; Donatella Tampieri; Christopher Walsh; Charles L Truwit
X-linked malformations of neuronal migration.
Neurology 1996;47(2):331-9.
1996: E Schröck; S du Manoir; T Veldman; B Schoell; J Wienberg; M A Ferguson-Smith; Yi Ning; David Ledbetter; I Bar-Am; D Soenksen; Y Garini; Thomas Ried
Multicolor spectral karyotyping of human chromosomes.
Science (New York, N.Y.) 1996;273(5274):494-7.
1996: K Naruse; M Ueno; T Satoh; Hisayuki Nomiyama; H Tei; M Takeda; David Ledbetter; E V Coillie; Ghislain Opdenakker; N Gunge; Y Sakaki; M Iio; Retsu Miura
A YAC contig of the human CC chemokine genes clustered on chromosome 17q11.2.
Genomics 1996;34(2):236-40.
1996: Yi Ning; M Rosenberg; Leslie G Biesecker; David Ledbetter
Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.
Human genetics 1996;97(6):765-9.
1996: O Rösby; P Strömme; M Sandsmark; K Ramstad; E Ormerod; C Birger van der Hagen; T Kubota; David Ledbetter; Karen Helene Orstavik
Unilateral cleft lip in a boy with Angelman syndrome.
Journal of craniofacial genetics and developmental biology 1996;16(2):122-5.
1996: Susan L Christian; A C Smith; M Macha; S H Black; F F Elder; J M Johnson; R G Resta; U Surti; L Suslak; M S Verp; David Ledbetter
Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism.
Prenatal diagnosis 1996;16(4):323-32.
1996: H M Kingston; David Ledbetter; P I Tomlin; K L Gaunt
Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.
Journal of medical genetics 1996;33(1):69-72.
1995: Orly Reiner; I Bar-Am; Tamar Sapir; O Shmueli; R Carrozzo; Elizabeth Lindsay; A Baldini; David Ledbetter; A Cahana
LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2.
Genomics 1995;30(2):251-6.
1995: Leslie G Biesecker; M Rosenberg; L Dziadzio; David Ledbetter; Yi Ning; C Sarneso; K Rosenbaum
Detection of a subtle rearrangement of chromosome 22 using molecular techniques.
American journal of medical genetics 1995;58(4):389-94.
1995: J L Blouin; D H Christie; A Gos; A Lynn; Michael Morris; David Ledbetter; Aravinda Chakravarti; Stylianos Antonarakis
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination.
American journal of human genetics 1995;57(2):388-94.
1995: Susan L Christian; Wendy P Robinson; B Huang; A Mutirangura; M R Line; M Nakao; U Surti; Aravinda Chakravarti; David Ledbetter
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.
American journal of human genetics 1995;57(1):40-8.
1995: Mihael H Polymeropoulos; R Torres; J A Yanovski; S C Chandrasekharappa; David Ledbetter
The human corticotropin-releasing factor receptor (CRHR) gene maps to chromosome 17q12-q22.
Genomics 1995;28(1):123-4.
1995: A Scheuerle; J L Zenger-Hain; Daniel L Van Dyke; David Ledbetter; F Greenberg; Lisa Shaffer
Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter-->Xq26.1::15p11-->15qter).
American journal of medical genetics 1995;56(4):403-8.
1995: P H Gunaratne; M Nakao; David Ledbetter; James S Sutcliffe; A Craig Chinault
Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region.
Genes & development 1995;9(7):808-20.
1995: Christine Morris; Suzanne M Benjes; Leena Haataja; David Ledbetter; Nora Heisterkamp; John Groffen
Spatial organization of ABR and CRK genes on human chromosome band 17p13.3.
Oncogene 1995;10(5):1009-11.
1995: L L Estabrooks; W R Breg; M R Hayden; David Ledbetter; Richard Myers; H E Wyandt; T L Yang-Feng; K Hirschhorn
Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes".
American journal of medical genetics 1995;55(4):453-8.
1995: David Ledbetter; E Engel
Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis.
Human molecular genetics 1995;4 Spec No():1757-64.
1994: T Woodage; Z M Deng; M Prasad; R Smart; R Lindeman; S L Christian; David Ledbetter; L Robson; A Smith; Ronald J Trent
A variety of genetic mechanisms are associated with the Prader-Willi syndrome.
American journal of medical genetics 1994;54(3):219-26.
1994: James S Sutcliffe; M Nakao; Susan L Christian; K H Orstavik; Niels Tommerup; David Ledbetter; Arthur L Beaudet
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
Nature genetics 1994;8(1):52-8.
1994: S Saitoh; A Mutirangura; A Kuwano; David Ledbetter; Norio Niikawa
Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions.
American journal of medical genetics 1994;50(1):64-7.
1994: M Isomura; A Tanigami; H Saito; Y Harada; T Katagiri; Johji Inazawa; David Ledbetter; Y Nakamura
Detailed analysis of loss of heterozygosity on chromosome band 17p13 in breast carcinoma on the basis of a high-resolution physical map with 29 markers.
Genes, chromosomes & cancer 1994;9(3):173-9.
1994: M Nakao; James S Sutcliffe; B Durtschi; A Mutirangura; David Ledbetter; Arthur L Beaudet
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).
Human molecular genetics 1994;3(2):309-15.
1994: N Ben-Arie; Doron Lancet; C Taylor; M Khen; N Walker; David Ledbetter; R Carrozzo; K Patel; Denise Sheer; H Lehrach
Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire.
Human molecular genetics 1994;3(2):229-35.
1993: William B Dobyns; Orly Reiner; R Carrozzo; David Ledbetter
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
JAMA : the journal of the American Medical Association 1993;270(23):2838-42.
1993: A Mutirangura; A Jayakumar; James S Sutcliffe; M Nakao; M J McKinney; Karin Buiting; Bernhard Horsthemke; Arthur L Beaudet; A Craig Chinault; David Ledbetter
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
Genomics 1993;18(3):546-52.
1993: S S Washington; Anne M Bowcock; S Gerken; Nori Matsunami; D Lesh; S L Osborne-Lawrence; John Kenneth Cowell; David Ledbetter; Raymond White; Aravinda Chakravarti
A somatic cell hybrid map of human chromosome 13.
Genomics 1993;18(3):486-95.
1993: Karin Buiting; B Dittrich; Stephanie Gross; V Greger; M Lalande; W Robinson; A Mutirangura; David Ledbetter; Bernhard Horsthemke
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.
Human molecular genetics 1993;2(12):1991-4.
1993: Wendy P Robinson; F Bernasconi; A Mutirangura; David Ledbetter; Sylvie Langlois; S Malcolm; Michael Morris; Albert Schinzel
Nondisjunction of chromosome 15: origin and recombination.
American journal of human genetics 1993;53(3):740-51.
1993: Lisa Shaffer; J Overhauser; L G Jackson; David Ledbetter
Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.
American journal of medical genetics 1993;47(3):383-6.
1993: Orly Reiner; R Carrozzo; Y Shen; M Wehnert; F Faustinella; William B Dobyns; CT Caskey; David Ledbetter
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Nature 1993;364(6439):717-21.
1993: R Carrozzo; David Ledbetter
Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3).
Human molecular genetics 1993;2(5):615.
1993: Max J Coppes; H Sohl; Ikuko Teshima; A Mutirangura; David Ledbetter; R Weksberg
Wilms tumor in a patient with Prader-Willi syndrome.
The Journal of pediatrics 1993;122(5 Pt 1):730-3.
1993: Lisa Shaffer; J T Hecht; David Ledbetter; F Greenberg
Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation.
American journal of medical genetics 1993;45(5):581-3.
1993: Apiwat Mutirangura; F Greenberg; M G Butler; S Malcolm; R D Nicholls; Aravinda Chakravarti; David Ledbetter
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.
Human molecular genetics 1993;2(2):143-51.
1992: M Labuda; T M Fujiwara; M V Ross; K Morgan; J Garcia-Heras; David Ledbetter; M R Hughes; Francis Glorieux
Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 1992;7(12):1447-53.
1992: J Fielding Hejtmancik; S Black; S Harris; P A Ward; C Callaway; David Ledbetter; J Morris; S H Leech; M S Pollack
Congenital 21-hydroxylase deficiency as a new deletion mutation. Detection in a proband during subsequent prenatal diagnosis by HLA typing and DNA analysis.
Human immunology 1992;35(4):246-52.
1992: R A Bascom; J García-Heras; C L Hsieh; D S Gerhard; C Jones; U Francke; H F Willard; David Ledbetter; Roderick R McInnes
Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM.
American journal of human genetics 1992;51(5):1028-35.
1992: David Ledbetter
Minireview: cryptic translocations and telomere integrity.
American journal of human genetics 1992;51(3):451-6.
1992: L R Hendricks-Taylor; Linda L Bachinski; M J Siciliano; A Fertitta; Barbara J Trask; P J de Jong; David Ledbetter; Gretchen Darlington
The CCAAT/enhancer binding protein (C/EBP alpha) gene (CEBPA) maps to human chromosome 19q13.1 and the related nuclear factor NF-IL6 (C/EBP beta) gene (CEBPB) maps to human chromosome 20q13.1.
Genomics 1992;14(1):12-7.
1992: L G Jackson; J M Zachary; S E Fowler; R J Desnick; M S Golbus; David Ledbetter; M J Mahoney; Eugene Pergament; Joe Simpson; S Black
A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group.
The New England journal of medicine 1992;327(9):594-8.
1992: John C Mulley; A M Turner; Agi K Gedeon; V A Berdoukas; T H Huang; David Ledbetter; H Grierson; D T Purtilo
X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male.
Clinical genetics 1992;42(2):76-9.
1992: David Ledbetter
The 'colorizing' of cytogenetics: is it ready for prime time?
Human molecular genetics 1992;1(5):297-9.
1992: G An; T H Huang; Yohannes Tesfaigzi; J Garcia-Heras; David Ledbetter; D M Carlson; Reen Wu
An unusual expression of a squamous cell marker, small proline-rich protein gene, in tracheobronchial epithelium: differential regulation and gene mapping.
American journal of respiratory cell and molecular biology 1992;7(1):104-11.
1992: William B Dobyns; E R Elias; A C Newlin; R A Pagon; David Ledbetter
Causal heterogeneity in isolated lissencephaly.
Neurology 1992;42(7):1375-88.
1992: Vic Velanovich; David Ledbetter; E McGahren; Jed Nuchtern; R Schaller
Foreign bodies within a Meckel's diverticulum.
Archives of surgery (Chicago, Ill. : 1960) 1992;127(7):864.
1992: T H Huang; R W Cottingham; David Ledbetter; Huda Y Zoghbi
Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction.
Genomics 1992;13(2):375-80.
1992: M S Golbus; Joe Simpson; S E Fowler; F de la Cruz; R J Desnick; Ronald J Wapner; David Ledbetter; H Lubs; M J Mahoney; Eugene Pergament
Risk factors associated with transcervical CVS losses.
Prenatal diagnosis 1992;12(5):373-6.
1992: R J Desnick; J L Schuette; M S Golbus; L Jackson; H A Lubs; David Ledbetter; M J Mahoney; Eugene Pergament; Joe Simpson; J M Zachary
First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative study.
Prenatal diagnosis 1992;12(5):357-72.
1992: Ronald J Wapner; Joe Simpson; M S Golbus; J M Zachary; David Ledbetter; R J Desnick; S E Fowler; L G Jackson; H Lubs; R J Mahony
Chorionic mosaicism: association with fetal loss but not with adverse perinatal outcome.
Prenatal diagnosis 1992;12(5):347-55.
1992: David Ledbetter; J M Zachary; Joe Simpson; M S Golbus; Eugene Pergament; L Jackson; M J Mahoney; R J Desnick; J Schulman; K L Copeland
Cytogenetic results from the U.S. Collaborative Study on CVS.
Prenatal diagnosis 1992;12(5):317-45.
1992: A Mutirangura; A Kuwano; Susan Airhart; A Craig Chinault; David Ledbetter
Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.
Human molecular genetics 1992;1(2):139.
1992: JF Arena; C Schwartz; R Stevenson; L Lawrence; A Carpenter; Ranjan Duara; David Ledbetter; T Huang; T Lehner; J Ott
Spastic paraplegia with iron deposits in the basal ganglia: a new X-linked mental retardation syndrome.
American journal of medical genetics 1992;43(1-2):479-90.
1992: Charles E Schwartz; M May; T Huang; David Ledbetter; G Anderson; David Barker; H A Lubs; F Arena; Roger E Stevenson
MRX8: an X-linked mental retardation condition with linkage to Xq21.
American journal of medical genetics 1992;43(1-2):467-74.
1992: L Pentao; R A Lewis; David Ledbetter; Pragna I Patel; James R Lupski
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
American journal of human genetics 1992;50(4):690-9.
1992: Apiwat Mutirangura; Susan Airhart; A Kuwano; A Craig Chinault; David Ledbetter
Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.
Human molecular genetics 1992;1(1):67.
1992: James R Lupski; C A Wise; A Kuwano; L Pentao; J T Parke; Daniel G Glaze; David Ledbetter; F Greenberg; Pragna I Patel
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Nature genetics 1992;1(1):29-33.
1992: Susan Airhart; A Kuwano; William B Dobyns; David Ledbetter
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
American journal of human genetics 1992;50(1):182-9.
1991: T H Huang; J Fielding Hejtmancik; A Edwards; A L Pettigrew; C A Herrera; H A Hammond; CT Caskey; Huda Y Zoghbi; David Ledbetter
Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).
American journal of human genetics 1991;49(6):1312-9.
1991: M R Altherr; U Bengtsson; F F Elder; David Ledbetter; JJ Wasmuth; M E McDonald; James Gusella; F Greenberg
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.
American journal of human genetics 1991;49(6):1235-42.
1991: A Kuwano; Susan Airhart; William B Dobyns; B S Emanuel; David Ledbetter
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
American journal of human genetics 1991;49(4):707-14.
1991: L C Surh; David Ledbetter; F Greenberg
Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1].
American journal of medical genetics 1991;41(1):15-7.
1991: A Mares; Susan Airhart; David Ledbetter; Robert Roberts; J Fielding Hejtmancik
Isolation of a human chromosome 14-only somatic cell hybrid: analysis using Alu and LINE-based PCR.
Genomics 1991;11(1):215-8.
1991: J J White; David Ledbetter; R L Eddy; T B Shows; D A Stewart; M J Nuell; V Friedman; C M Wood; G A Owens; J K McClung
Assignment of the human prohibitin gene (PHB) to chromosome 17 and identification of a DNA polymorphism.
Genomics 1991;11(1):228-30.
1991: James R Lupski; C Langston; R Friedman; David Ledbetter; F Greenberg
Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).
American journal of medical genetics 1991;40(2):196-8.
1991: A L Pettigrew; E R McCabe; F F Elder; David Ledbetter
Isodicentric X chromosome in a patient with Turner syndrome--implications for localization of the X-inactivation center.
Human genetics 1991;87(4):498-502.
1991: A L Pettigrew; F Greenberg; CT Caskey; David Ledbetter
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.
Human genetics 1991;87(4):452-6.
1991: Yi Ning; J L Weber; Ann McNeill Killary; David Ledbetter; James R Smith; Olivia M Pereira-Smith
Genetic analysis of indefinite division in human cells: evidence for a cell senescence-related gene(s) on human chromosome 4.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(13):5635-9.
1991: Brunella Franco; L W Lai; D Patterson; David Ledbetter; Barbara J Trask; Ger van den Engh; S Iannaccone; S Frances; Pragna I Patel; James R Lupski
Molecular characterization of a patient with del(1)(q23-q25).
Human genetics 1991;87(3):269-77.
1991: Barrett J Rollins; C C Morton; David Ledbetter; R L Eddy; T B Shows
Assignment of the human small inducible cytokine A2 gene, SCYA2 (encoding JE or MCP-1), to 17q11.2-12: evolutionary relatedness of cytokines clustered at the same locus.
Genomics 1991;10(2):489-92.
1991: N Morrison; J P Goddard; David Ledbetter; E Boyd; D Bourn; J Michael Connor
Chromosomal assignment of a large tRNA gene cluster (tRNA(Leu), tRNA(Gln), tRNA(Lys), tRNA(Arg), tRNA(Gly)) to 17p13.1.
Human genetics 1991;87(2):226-30.
1991: David Ledbetter
Journal policies concerning free access to scientific materials.
American journal of medical genetics 1991;39(3):371-2.
1991: Ad Geurts van Kessel; H de Leeuw; E J Dekker; L Rijks; N Spurr; David Ledbetter; E Kootwijk; M J Vaessen
Localization of the cellular retinoic acid binding protein (CRABP) gene relative to the acute promyelocytic leukemia-associated breakpoint on human chromosome 15.
Human genetics 1991;87(2):201-4.
1991: T H Huang; F Greenberg; David Ledbetter
Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences.
Human genetics 1991;86(6):619-20.
1991: Alfred L George; David Ledbetter; R G Kallen; Robert L Barchi
Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3.
Genomics 1991;9(3):555-6.
1991: William B Dobyns; Cynthia J Curry; H E Hoyme; L Turlington; David Ledbetter
Clinical and molecular diagnosis of Miller-Dieker syndrome.
American journal of human genetics 1991;48(3):584-94.
1991: Susan Airhart; C E Schwartz; K E Davies; David Ledbetter
New somatic cell hybrids for physical mapping in distal Xq and the fragile X region.
American journal of medical genetics 1991;38(2-3):418-20.
1991: A L Pettigrew; L G Jackson; David Ledbetter
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures.
American journal of medical genetics 1991;38(2-3):200-7.
1991: Mark Hirst; M V Bell; R N MacKinnon; J E Watson; D Callen; G Sutherland; N Dahl; M N Patterson; C Schwartz; David Ledbetter
Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site.
American journal of medical genetics 1991;38(2-3):354-6.
1991: Carolyn J Brown; R G Lafreniere; V E Powers; G Sebastio; A Ballabio; A L Pettigrew; David Ledbetter; E Levy; I W Craig; Huntington F Willard
Localization of the X inactivation centre on the human X chromosome in Xq13.
Nature 1991;349(6304):82-4.
1991: R G Taylor; J García-Heras; S J Sadler; R G Lafreniere; H F Willard; David Ledbetter; Roderick R McInnes
Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1.
Cytogenetics and cell genetics 1991;56(3-4):178-81.
1991: P R Fain; E Solomon; David Ledbetter
Second international workshop on human chromosome 17.
Cytogenetics and cell genetics 1991;57(2-3):66-77.
1991: Yi Ning; J W Shay; M Lovell; L Taylor; David Ledbetter; Olivia M Pereira-Smith
Tumor suppression by chromosome 11 is not due to cellular senescence.
Experimental cell research 1991;192(1):220-6.
1990: Susan Airhart; J Garcia-Heras; David Ledbetter
"PCR-karyotype" of human chromosomes in somatic cell hybrids.
Genomics 1990;8(4):614-22.
1990: J R Batanian; Susan Airhart; R K Wolff; Y Nakamura; Raymond White; William B Dobyns; David Ledbetter
Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
Human genetics 1990;85(5):555-9.
1990: P Lichter; Susan Airhart; David Ledbetter; David C Ward
Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(17):6634-8.
1990: J L Weber; A E Kwitek; P E May; M R Wallace; Francis S Collins; David Ledbetter
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci.
Nucleic acids research 1990;18(15):4640.
1990: Peter O'Connell; David H Viskochil; Arthur Buchberg; JW Fountain; R M Cawthon; M Culver; J Stevens; D C Rich; David Ledbetter; M Wallace
The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations.
Genomics 1990;7(4):547-54.
1990: R S Lemons; D Eilender; R A Waldmann; M Rebentisch; A K Frej; David Ledbetter; Cheryl L Willman; T McConnell; P O'Connell
Cloning and characterization of the t(15;17) translocation breakpoint region in acute promyelocytic leukemia.
Genes, chromosomes & cancer 1990;2(2):79-87.
1990: Susan Airhart; M R Wallace; Francis S Collins; David Ledbetter
Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17p13.3.
Genomics 1990;7(2):264-9.
1990: Pragna I Patel; Brunella Franco; C Garcia; S A Slaugenhaupt; Y Nakamura; David Ledbetter; Aravinda Chakravarti; James R Lupski
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
American journal of human genetics 1990;46(4):801-9.
1990: J A Luty; Z Guo; H F Willard; David Ledbetter; S Ledbetter; M Litt
Five polymorphic microsatellite VNTRs on the human X chromosome.
American journal of human genetics 1990;46(4):776-83.
1990: Susan Airhart; David L Nelson; Stephen Warren; David Ledbetter
Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction.
Genomics 1990;6(3):475-81.
1990: David J Kwiatkowski; L Aklog; David Ledbetter; C C Morton
Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome.
American journal of human genetics 1990;46(3):559-67.
1990: Pragna I Patel; David Ledbetter; S Frances; Brunella Franco; M R Wallace; Francis S Collins; James R Lupski
Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251].
Nucleic acids research 1990;18(4):1087.
1990: S Juul; David Ledbetter; T N Wight; D Woodrum
New insights into idiopathic infantile arterial calcinosis. Three patient reports.
American journal of diseases of children (1960) 1990;144(2):229-33.
1990: David Ledbetter; A O Martin; Yury Verlinsky; Eugene Pergament; L Jackson; T Yang-Feng; S A Schonberg; F Gilbert; J M Zachary; Mason Barr
Cytogenetic results of chorionic villus sampling: high success rate and diagnostic accuracy in the United States collaborative study.
American journal of obstetrics and gynecology 1990;162(2):495-501.
1990: Steven J Pittler; Wolfgang Baehr; J J Wasmuth; D G McConnell; M S Champagne; P vanTuinen; David Ledbetter; R L Davis
Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene.
Genomics 1990;6(2):272-83.
1990: Richard N Sifers; F D Ledley; L Reed-Fourquet; David Ledbetter; Susan Airhart; SL Woo
Complete cDNA sequence and chromosomal localization of mouse alpha 1-antitrypsin.
Genomics 1990;6(1):100-4.
1990: Huda Y Zoghbi; David Ledbetter; R Schultz; Alan K Percy; Daniel G Glaze
A de novo X;3 translocation in Rett syndrome.
American journal of medical genetics 1990;35(1):148-51.
1990: T J Robinson; D J Morris; David Ledbetter
Chromosomal assignment and regional localization of myeloperoxidase in the mouse.
Cytogenetics and cell genetics 1990;53(2-3):83-6.
1990: E Solomon; David Ledbetter
Report of the committee on the genetic constitution of chromosome 17.
Cytogenetics and cell genetics 1990;55(1-4):198-215.
1989: K L Copeland; RJ Carpenter; K R Fenolio; David Ledbetter
Integration of the transabdominal technique into an ongoing chorionic villus sampling program.
American journal of obstetrics and gynecology 1989;161(5):1289-94.
1989: David L Nelson; Susan Airhart; L Corbo; M F Victoria; R Ramírez-Solis; T D Webster; David Ledbetter; CT Caskey
Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(17):6686-90.
1989: A G Menon; David Ledbetter; D C Rich; BR Seizinger; G A Rouleau; V F Michels; M A Schmidt; G Dewald; C M DallaTorre; Jonathan L Haines
Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17.
Genomics 1989;5(2):245-9.
1989: David Ledbetter; Susan Airhart; P vanTuinen; K M Summers; T J Robinson; Y Nakamura; R Wolff; Raymond White; David Barker; M R Wallace
Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(13):5136-40.
1989: Peter O'Connell; Robin J Leach; R M Cawthon; M Culver; J Stevens; David H Viskochil; R E Fournier; D C Rich; David Ledbetter; Raymond White
Two NF1 translocations map within a 600-kilobase segment of 17q11.2.
Science (New York, N.Y.) 1989;244(4908):1087-8.
1989: S J Baker; Eric R Fearon; J M Nigro; Stanley R Hamilton; A C Preisinger; J M Jessup; P vanTuinen; David Ledbetter; David Barker; Y Nakamura; Raymond White; Bert Vogelstein
Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas.
Science (New York, N.Y.) 1989;244(4901):217-21.
1989: M Litt; A Buder; Henrik Vissing; P van Tuinen; David Ledbetter
An anonymous single-copy clone, p55-B1, from chromosome 17 identifies a TaqI RFLP [HGM9 no. D17S86].
Nucleic acids research 1989;17(6):2371.
1989: G G Rhoads; L G Jackson; S E Schlesselman; F F de la Cruz; R J Desnick; M S Golbus; David Ledbetter; H A Lubs; M J Mahoney; Eugene Pergament
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.
The New England journal of medicine 1989;320(10):609-17.
1989: S B Cassidy; David Ledbetter
Prader-Willi syndrome.
Neurologic clinics 1989;7(1):37-54.
1989: Rhonda E Schnur; Susan Airhart; David Ledbetter; Diane E Merry; Robert L Nussbaum
New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization.
American journal of human genetics 1989;44(2):248-54.
1989: G R Sutherland; David Ledbetter
Report of the committee on cytogenetic markers.
Cytogenetics and cell genetics 1989;51(1-4):452-8.
1989: Peter O'Connell; Robin J Leach; David Ledbetter; R M Cawthon; M Culver; J R Eldridge; A K Frej; T R Holm; E Wolff; Mathew J Thayer
Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type I.
American journal of human genetics 1989;44(1):51-7.
1989: JW Fountain; M R Wallace; A M Brereton; Peter O'Connell; Raymond White; D C Rich; David Ledbetter; Robin J Leach; R E Fournier; A G Menon
Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17.
American journal of human genetics 1989;44(1):58-67.
1989: David Ledbetter; D C Rich; P O'Connell; M Leppert; J C Carey
Precise localization of NF1 to 17q11.2 by balanced translocation.
American journal of human genetics 1989;44(1):20-4.
1988: A O Martin; H Northrup; David Ledbetter; Barbara J Trask; Ger van den Engh; M M Le Beau; Arthur L Beaudet; Joe Gray; G Sekhon; N Krassikoff
Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis.
American journal of medical genetics 1988;31(3):643-54.
1988: F Greenberg; Frederick F Elder; P Haffner; Hope Northrup; David Ledbetter
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.
American journal of human genetics 1988;43(5):605-11.
1988: P vanTuinen; William B Dobyns; D C Rich; K M Summers; T J Robinson; Y Nakamura; David Ledbetter
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
American journal of human genetics 1988;43(5):587-96.
1988: Y Z Zhou; Betty L Slagle; Lawrence A Donehower; P vanTuinen; David Ledbetter; Janet S Butel
Structural analysis of a hepatitis B virus genome integrated into chromosome 17p of a human hepatocellular carcinoma.
Journal of virology 1988;62(11):4224-31.
1988: D C Rich; C M Witkowski; K M Summers; P van Tuinen; David Ledbetter
Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. [HGM9 provisional no. D15S24].
Nucleic acids research 1988;16(17):8740.
1988: F Greenberg; K B Courtney; R A Wessels; J Huhta; RJ Carpenter; D C Rich; David Ledbetter
Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly.
American journal of medical genetics 1988;31(1):1-4.
1988: F Greenberg; David Ledbetter
Chromosome abnormalities and Williams syndrome.
American journal of medical genetics 1988;30(4):993-6.
1988: M Litt; S Kondoleon; Henrik Vissing; P van Tuinen; David Ledbetter
Cosmid 128 defines three RFLPs on chromosome 17q23-qter. [HGM9 no. D17S77].
Nucleic acids research 1988;16(13):6251.
1988: J Luty; S Kondoleon; P van Tuinen; David Ledbetter; Henrik Vissing; A Ramsay; M Litt
RFLPs revealed by cosmid 131 [HGM9 no. D17S78].
Nucleic acids research 1988;16(13):6250.
1988: F D Ledley; M R Lumetta; Huda Y Zoghbi; P VanTuinen; Susan Airhart; David Ledbetter
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
American journal of human genetics 1988;42(6):839-46.
1988: D M Sosnoski; Beverly S Emanuel; A L Hawkins; P van Tuinen; David Ledbetter; Robert L Nussbaum; F T Kaos; E Schwartz; D Phillips; Joel S Bennett
Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa.
The Journal of clinical investigation 1988;81(6):1993-8.
1988: Susan Airhart; David Ledbetter
A common fragile site at Xq27: theoretical and practical implications.
American journal of human genetics 1988;42(5):694-702.
1988: D S Reilly; R A Lewis; David Ledbetter; Robert L Nussbaum
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment.
American journal of human genetics 1988;42(5):748-55.
1988: G E Herman; F Greenberg; David Ledbetter
Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).
American journal of medical genetics 1988;29(4):909-15.
1988: J E Spence; R G Perciaccante; G M Greig; H F Willard; David Ledbetter; J Fielding Hejtmancik; M S Pollack; William E O'Brien; Arthur L Beaudet
Uniparental disomy as a mechanism for human genetic disease.
American journal of human genetics 1988;42(2):217-26.
1988: S Datta; C C Luo; W H Li; P VanTuinen; David Ledbetter; M A Brown; S H Chen; S W Liu; Lawrence Chan
Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase.
The Journal of biological chemistry 1988;263(3):1107-10.
1988: F D Ledley; Susan Airhart; David Ledbetter; SL Woo
Localization of mouse phenylalanine hydroxylase locus on chromosome 10.
Cytogenetics and cell genetics 1988;47(3):125-6.
1988: P Selvanayagam; M Blick; F Narni; P van Tuinen; David Ledbetter; Raymond Alexanian; Grady F Saunders; Bart Barlogie
Alteration and abnormal expression of the c-myc oncogene in human multiple myeloma.
Blood 1988;71(1):30-5.
1988: G R Sutherland; David Ledbetter
Report of the committee on cytogenetic markers.
Cytogenetics and cell genetics 1988;49(1-3):221-3.
1987: F Greenberg; Frederick F Elder; David Ledbetter
Neonatal diagnosis of Prader-Willi syndrome and its implications.
American journal of medical genetics 1987;28(4):845-56.
1987: F Greenberg; David Ledbetter
Deletions of proximal 15q without Prader-Willi syndrome.
American journal of medical genetics 1987;28(4):813-20.
1987: A L Pettigrew; S M Gollin; F Greenberg; V M Riccardi; David Ledbetter
Duplication of proximal 15q as a cause of Prader-Willi syndrome.
American journal of medical genetics 1987;28(4):791-802.
1987: P van Tuinen; D C Rich; K M Summers; David Ledbetter
Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.
Genomics 1987;1(4):374-81.
1987: N E Buroker; S Kondoleon; P van Tuinen; David Ledbetter; M Litt
Cosmid 1-26 defines four RFLPs on chromosome 17q23-qter [HGM9 No. D17S20].
Nucleic acids research 1987;15(21):9097.
1987: S Kondoleon; P van Tuinen; David Ledbetter; Henrik Vissing; M Litt
An anonymous single-copy clone, pC63, from chromosome 17q23-qter identifies a frequent RFLP [HGM9 No. D17S21].
Nucleic acids research 1987;15(21):9096.
1987: M Lubinsky; H Zellweger; L Greenswag; G Larson; I Hansmann; David Ledbetter
Familial Prader-Willi syndrome with apparently normal chromosomes.
American journal of medical genetics 1987;28(1):37-43.
1987: Robert L Nussbaum; J G Lesko; R A Lewis; Susan Airhart; David Ledbetter
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(18):6521-5.
1987: Jeffrey M. Trent; Irwin L Flink; Eugene Morkin; P van Tuinen; David Ledbetter
Localization of the human thyroxine-binding globulin gene to the long arm of the X chromosome (Xq21-22).
American journal of human genetics 1987;41(3):428-35.
1987: F D Ledley; H E Grenett; D P Bartos; P van Tuinen; David Ledbetter; SL Woo
Assignment of human tryptophan hydroxylase locus to chromosome 11: gene duplication and translocation in evolution of aromatic amino acid hydroxylases.
Somatic cell and molecular genetics 1987;13(5):575-80.
1987: David Tweardy; Linda Cannizzaro; A P Palumbo; S Shane; Kay Huebner; P Vantuinen; David Ledbetter; J B Finan; Peter C Nowell; G Rovera
Molecular cloning and characterization of a cDNA for human granulocyte colony-stimulating factor (G-CSF) from a glioblastoma multiforme cell line and localization of the G-CSF gene to chromosome band 17q21.
Oncogene research 1987;1(3):209-20.
1987: Gregory I Liou; S L Fong; JR Gosden; P van Tuinen; David Ledbetter; Sheila Christie; D Rout; S Bhattacharya; R G Cook; Y Li
Human interstitial retinol-binding protein (IRBP): cloning, partial sequence, and chromosomal localization.
Somatic cell and molecular genetics 1987;13(4):315-23.
1987: J E Spence; G J Buffone; C L Rosenbloom; S D Fernbach; M R Curry; R J Carpenter; David Ledbetter; William E O'Brien; Arthur L Beaudet
Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis.
Human genetics 1987;76(1):5-10.
1987: C M Wood; Terry L Timme; M M Hurt; B R Brinkley; David Ledbetter; Robb Moses
Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid.
Experimental cell research 1987;169(2):543-53.
1987: F Greenberg; M V Gresik; R J Carpenter; S W Law; L P Hoffman; David Ledbetter
The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect.
American journal of medical genetics 1987;26(1):59-64.
1987: P van Tuinen; K R Johnson; Susan Airhart; Robert L Nussbaum; G Rovera; David Ledbetter
Localization of myeloperoxidase to the long arm of human chromosome 17: relationship to the 15; 17 translocation of acute promyelocytic leukemia.
Oncogene 1987;1(3):319-22.
1986: M G Humphreys-Beher; B Bunnell; P vanTuinen; David Ledbetter; V J Kidd
Molecular cloning and chromosomal localization of human 4-beta-galactosyltransferase.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(23):8918-22.
1986: David Ledbetter; Susan Airhart; Robert L Nussbaum
Implications of fragile X expression in normal males for the nature of the mutation.
Nature 1986;324(6093):161-3.
1986: F Greenberg; C Valdes; H M Rosenblatt; J L Kirkland; David Ledbetter
Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndrome.
The Journal of pediatrics 1986;109(3):489-92.
1986: S H Chen; P Van Tuinen; David Ledbetter; Louis C Smith; L Chan
Human liver fatty acid binding protein gene is located on chromosome 2.
Somatic cell and molecular genetics 1986;12(3):303-6.
1986: F Greenberg; R F Stratton; L H Lockhart; F F Elder; W B Dobyns; David Ledbetter
Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
American journal of medical genetics 1986;23(4):853-9.
1986: M E Goode; P vanTuinen; David Ledbetter; Stephen P Daiger
The anonymous polymorphic DNA clone D1S1, previously mapped to human chromosome 1p36 by in situ hybridization, is from chromosome 3 and is duplicated on chromosome 1.
American journal of human genetics 1986;38(4):437-46.
1986: Robert L Nussbaum; David Ledbetter
Fragile X syndrome: a unique mutation in man.
Annual review of genetics 1986;20():109-45.
1986: Robert L Nussbaum; Susan Airhart; David Ledbetter
Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis.
American journal of medical genetics 1986;23(1-2):715-21.
1986: Robert L Nussbaum; Susan Airhart; David Ledbetter
A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site.
American journal of medical genetics 1986;23(1-2):457-66.
1986: David Ledbetter; Susan Airhart; Robert L Nussbaum
Caffeine enhances fragile (X) expression in somatic cell hybrids.
American journal of medical genetics 1986;23(1-2):445-55.
1986: David Ledbetter; Susan Airhart; Robert L Nussbaum
Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male.
American journal of medical genetics 1986;23(1-2):429-43.
1985: LH Yamaoka; R J Bartlett; D A Ross; G H Fey; David Ledbetter; G Bruns; Margaret Pericak-Vance; Michael H Herbstreith; Allen D Roses
Localization of cloned unique DNA to three different regions of chromosome 19: screen for linkage probes for myotonic dystrophy.
Journal of neurogenetics 1985;2(6):403-12.
1985: J F Hejtmancik; David Ledbetter; Arthur L Beaudet; M M Quigley
A trisomic child after in vitro fertilization: result of paternal nondisjunction.
Fertility and sterility 1985;44(6):830-1.
1985: L Chan; P VanTuinen; David Ledbetter; Stephen P Daiger; A M Gotto; S H Chen
The human apolipoprotein B-100 gene: a highly polymorphic gene that maps to the short arm of chromosome 2.
Biochemical and biophysical research communications 1985;133(1):248-55.
1985: Robert L Nussbaum; R M Walmsley; J G Lesko; Susan Airhart; David Ledbetter
Thymidylate synthase-deficient Chinese hamster cells: a selection system for human chromosome 18 and experimental system for the study of thymidylate synthase regulation and fragile X expression.
American journal of human genetics 1985;37(6):1192-205.
1985: M G Butler; David Ledbetter; J T Mascarello
Birth seasonality in Prader-Willi syndrome.
Lancet 1985;2(8459):828-9.
1985: E S Cantú; Robert L Nussbaum; Susan Airhart; David Ledbetter
Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity.
American journal of human genetics 1985;37(5):947-55.
1985: S M Gollin; H G Bock; C T Caskey; David Ledbetter
A new family with fra(10)(q25): spontaneous expression and 100% expression with 100 microM BrdU.
American journal of medical genetics 1985;21(4):643-8.
1985: S M Gollin; G P Holmquist; David Ledbetter
Fra(10)(q25): the BrdU effect is substitution-dependent.
American journal of human genetics 1985;37(1):208-14.
1984: T S Su; Robert L Nussbaum; Susan Airhart; David Ledbetter; T Mohandas; W E O'Brien; Arthur L Beaudet
Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis.
American journal of human genetics 1984;36(5):954-64.
1984: P I Patel; Robert L Nussbaum; P E gramson; David Ledbetter; C T Caskey; A C Chinault
Organization of the HPRT gene and related sequences in the human genome.
Somatic cell and molecular genetics 1984;10(5):483-93.
1984: R F Stratton; W B Dobyns; Susan Airhart; David Ledbetter
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
Human genetics 1984;67(2):193-200.
1984: F Greenberg; W E Crowder; V Paschall; J Colon-Linares; B Lubianski; David Ledbetter
Familial DiGeorge syndrome and associated partial monosomy of chromosome 22.
Human genetics 1984;65(4):317-9.
1983: F Greenberg; R J Carpenter; David Ledbetter
Cystic hygroma and hydrops fetalis in a fetus with trisomy 13.
Clinical genetics 1983;24(5):389-91.
1983: P Van Tuinen; David Ledbetter
Cytogenetic comparison and phylogeny of three species of Hylobatidae.
American journal of physical anthropology 1983;61(4):453-66.
1983: J C Fuscoe; R G Fenwick; David Ledbetter; C T Caskey
Deletion and amplification of the HGPRT locus in Chinese hamster cells.
Molecular and cellular biology 1983;3(6):1086-96.
1983: W B Dobyns; R F Stratton; J T Parke; F Greenberg; Robert L Nussbaum; David Ledbetter
Miller-Dieker syndrome: lissencephaly and monosomy 17p.
The Journal of pediatrics 1983;102(4):552-8.
1983: Robert L Nussbaum; Susan Airhart; David Ledbetter
Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid.
Human genetics 1983;64(2):148-50.
1982: David Ledbetter; K W Dumars; R J Carpenter; C T Caskey
Amniotic-fluid-cell-culture failure and syringe toxicity revisited.
American journal of human genetics 1982;34(5):823-6.
1982: H M Hittner; R A King; V M Riccardi; David Ledbetter; R P Borda; R E Ferrell; F L Kretzer
Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome.
American journal of ophthalmology 1982;94(3):328-37.
1982: David Ledbetter; J T Mascarello; V M Riccardi; V D Harper; Susan Airhart; R J Strobel
Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.
American journal of human genetics 1982;34(2):278-85.
1981: D W Melton; D S Konecki; David Ledbetter; J F Hejtmancik; CT Caskey
In vitro translation of hypoxanthine/guanine phosphoribosyltransferase mRNA: characterization of a mouse neuroblastoma cell line that has elevated levels of hypoxanthine/guanine phosphoribosyltransferase protein.
Proceedings of the National Academy of Sciences of the United States of America 1981;78(11):6977-80.
1981: David Ledbetter; V M Riccardi; Susan Airhart; R J Strobel; B S Keenan; J D Crawford
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
The New England journal of medicine 1981;304(6):325-9.
1981: David Ledbetter
NOR-bearing Y chromosome in a primate, Hylobates (Symphalangus) syndactylus.
Cytogenetics and cell genetics 1981;29(4):250-2.
1981: V V Michels; D J Driscoll; David Ledbetter; V M Riccardi
Phenotype associated with ring 10 chromosome: report of patient and review of literature.
American journal of medical genetics 1981;9(3):231-7.
1980: R J Strobel; V M Riccardi; David Ledbetter; H M Hittner
Duplication 11p11.3 leads to 14.1 to meiotic crossing--over.
American journal of medical genetics 1980;7(1):15-20.
1980: H M Hittner; V M Riccardi; R E Ferrell; R J Strobel; David Ledbetter; L Strong; R Lebo
Genetic heterogeneity of aniridia: negative linkage data.
Metabolic and pediatric ophthalmology 1980;4(4):179-82.
1980: David Ledbetter; V M Riccardi; W W Au; D P Wilson; G P Holmquist
Ring chromosome 15: phenotype, Ag-NOR analysis, secondary aneuploidy, and associated chromosome instability.
Cytogenetics and cell genetics 1980;27(2-3):111-22.
1976: G G Gallup; David Ledbetter; J D Maser
Strain differences among chickens in tonic immobility: evidence for an emotionality component.
Journal of comparative and physiological psychology 1976;90(11):1075-81.