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Nancy Spinner

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Chromosomes, Human, Pair 20

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Jennifer M Kalish; Megan Kowalski; Virginia Livolsi; William G Mackenzie; Peter Mattei; Sogol Mostoufi-Moab; Surabhi Mulchandani; Kim E Nichols; Pierre Russo; Nancy B Spinner; Alisha B Wilkens; Kristin Zelley; Tricia R Bhatti; Jaclyn A Biegel; Laura K Conlin; Matthew A Deardorff
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.
Shuang Cui; Marcella Devoto; Steven F Eauclaire; Joseph T Glessner; Barbara A Haber; Hakon Hakonarson; Melissa Leyva-Vega; Nancy B Spinner; Ellen A Tsai; Randolph P Matthews
Evidence From Human and Zebrafish That GPC1 Is a Biliary Atresia Susceptibility Gene.
Kosuke Izumi; Surabhi Mulchandani; Avni B Santani; Nancy B Spinner; Catherine A Stolle; Brian D Thiel; Tanya Tischler; Elaine H Zackai; Matthew A Deardorff; Holly A Feret; Laura K Conlin
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

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All Publications

2013: Jennifer M Kalish; Megan Kowalski; Virginia Livolsi; William G Mackenzie; Peter Mattei; Sogol Mostoufi-Moab; Surabhi Mulchandani; Kim E Nichols; Pierre Russo; Nancy B Spinner; Alisha B Wilkens; Kristin Zelley; Tricia R Bhatti; Jaclyn A Biegel; Laura K Conlin; Matthew A Deardorff
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.
American journal of medical genetics. Part A 2013;161(5):993-1001.
2013: Shuang Cui; Marcella Devoto; Steven F Eauclaire; Joseph T Glessner; Barbara A Haber; Hakon Hakonarson; Melissa Leyva-Vega; Nancy B Spinner; Ellen A Tsai; Randolph P Matthews
Evidence From Human and Zebrafish That GPC1 Is a Biliary Atresia Susceptibility Gene.
Gastroenterology 2013;144(5):1107-1115.e3.
2013: Kosuke Izumi; Surabhi Mulchandani; Avni B Santani; Nancy B Spinner; Catherine A Stolle; Brian D Thiel; Tanya Tischler; Elaine H Zackai; Matthew A Deardorff; Holly A Feret; Laura K Conlin
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.
American journal of medical genetics. Part A 2013;161A(1):166-71.
2012: Laura K Conlin; Matthew A Deardorff; Hakon Hakonarson; Kosuke Izumi; Maninder Kaur; Phillip Pallister; Nancy B Spinner; Alisha Wilkens; Elaine H Zackai; Lindsey Campbell; Dinah Clark; Ian D Krantz
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.
American journal of medical genetics. Part A 2012;158A(12):3046-53.
2012: Kosuke Izumi; Donna Berrodin; Laura K Conlin; Christopher Fincher; Chad Haldeman-Englert; Sulagna C Saitta; Nancy B Spinner; Alisha Wilkens; Elaine H Zackai; Ian D Krantz
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.
American journal of medical genetics. Part A 2012;158A(12):3033-45.
2012: Cheryl DeScipio; Jennifer Goldstein; Y Hilhorst-Hofstee; Darlene Ho; Marie-Claude Addor; Swaroop Aradhya; Dinah Clark; Laura Conlin; Danielle Martinet; Thornton B A Mason; Marie T McDonald; Marianne McGuire; Livija Medne; Surabhi Mulchandani; Romela Pasion; Ankita Patel; Jill Rosenfeld; Claudia Ruivenkamp; Rosemarie Rupps; Alvaro H Serrano; Nancy B Spinner; James Tepperberg; Erik C Thorland; Anne C-H Tsai; Hilde Van Esch; Ian D Krantz
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
American journal of medical genetics. Part A 2012;158A(9):2152-61.
2012: Andrea L Penton; Laura D Leonard; Nancy B Spinner
Notch signaling in human development and disease.
Seminars in cell & developmental biology 2012;23(4):450-7.
2012: Henry C Lin; Kathleen M Loomes; Grace Chao; Jennifer Gerfen; Anne Hutchinson; Binita M Kamath; Ian D Krantz; Phuc Le Hoang; Nancy B Spinner
Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.
American journal of medical genetics. Part A 2012;158A(5):1005-13.
2012: Robert D Daber; Syed Hosain; Laura D Leonard; Lawrence W Brown; Maria Paola Canevini; Laura K Conlin; Aglaia Vignoli; Nancy B Spinner
Ring chromosome 20.
European journal of medical genetics 2012;55(5):381-7.
2012: Marian Reiff; Danielle Soucier; Barbara A Bernhardt; Diana Cornell; Surabhi Mulchandani; Reed E Pyeritz; Nancy B Spinner
"What does it mean?": uncertainties in understanding results of chromosomal microarray testing.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(2):250-8.
2012: Lauren J Francey; Joe Glessner; Hakon Hakonarson; Chaim Jalas; Hanna E Kadesch; Margaret A Kenna; Chaim Landau; Heidi L Rehm; Michal Sagi; Nancy B Spinner; Yi Sun; Donna Berrodin; Dinah Clark; Laura K Conlin; Ian D Krantz
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.
American journal of medical genetics. Part A 2012;158A(2):298-308.
2012: Binita M Kamath; Ian D Krantz; Laura D Leonard; Kathleen M Loomes; Jennifer Gerfen; Anne L Hutchinson; David A Piccoli; Gisele Podkameni; Nancy B Spinner; Kevin Meyers
Renal anomalies in Alagille syndrome: a disease-defining feature.
American journal of medical genetics. Part A 2012;158A(1):85-9.
2011: Robert Daber; Hakon Hakonarson; Stefanie Kasperski; Surabhi Mulchandani; Eduardo Ruchelli; Kimberly A Chapman; Laura K Conlin; Brian D Thiel; Elaine H Zackai; Nancy B Spinner
Mosaic trisomy 17: variable clinical and cytogenetic presentation.
American journal of medical genetics. Part A 2011;155A(10):2489-95.
2011: Melissa Leyva-Vega; Pamela F Weiss; Jaya Ganesh; Laura Conlin; Nancy B Spinner; Randolph P Matthews
Significant liver disease in a patient with Y116H mutation in the MVK gene.
American journal of medical genetics. Part A 2011;155A(6):1461-4.
2011: Laura K Conlin; Whitney Kramer; Anne L Hutchinson; Xia Li; Harold Riethman; Hakon Hakonarson; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic; Syed A Hosain; Nancy B Spinner
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.
Journal of medical genetics 2011;48(1):1-9.
2010: Matthew G Sampson; Curtis R Coughlin; Paige Kaplan; Laura K Conlin; Kevin E C Meyers; Elaine H Zackai; Nancy B Spinner; Lawrence Copelovitch
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.
American journal of medical genetics. Part A 2010;152A(10):2618-22.
2010: Jinglan Liu; Zhe Zhang; Masashige Bando; Takehiko Itoh; Matthew A Deardorff; Jennifer R Li; Dinah Clark; Maninder Kaur; Kondo Tatsuro; ANTONIE KLINE; Celia Chang; Hugo Vega; Laird G Jackson; Nancy B Spinner; Katsuhiko Shirahige; Ian D Krantz
Genome-wide DNA methylation analysis in cohesin mutant human cell lines.
Nucleic acids research 2010;38(17):5657-71.
2010: Christina B Bales; Binita M Kamath; Pedro S Munoz; Alexander Nguyen; David A Piccoli; Nancy B Spinner; David Horn; Justine Shults; Mary B Leonard; Adda Grimberg; Kathleen M Loomes
Pathologic lower extremity fractures in children with Alagille syndrome.
Journal of pediatric gastroenterology and nutrition 2010;51(1):66-70.
2010: Cheryl DeScipio; JD Morrissette; Laura K Conlin; Dinah Clark; Maninder Kaur; James Coplan; Harold Riethman; Nancy B Spinner; Ian D Krantz
Update on "two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20".
American journal of medical genetics. Part A 2010;152A(6):1599.
2010: Robert C Bauer; Ayanna O Laney; Rosemarie Smith; Jennifer Gerfen; Jennifer J D Morrissette; Stacy Woyciechowski; Jennifer Garbarini; Kathleen M Loomes; Ian D Krantz; Zsolt Urban; Bruce D Gelb; Elizabeth Goldmuntz; Nancy B Spinner
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
Human mutation 2010;31(5):594-601.
2010: Moira A Crowley; Laura K Conlin; Elaine H Zackai; Matthew A Deardorff; Brian D Thiel; Nancy B Spinner
Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum.
American journal of medical genetics. Part A 2010;152A(5):1326-7.
2010: Binita M Kamath; Pedro S Munoz; Natalie Bab; Alastair Baker; Zhongxue Chen; Nancy B Spinner; David A Piccoli
A longitudinal study to identify laboratory predictors of liver disease outcome in Alagille syndrome.
Journal of pediatric gastroenterology and nutrition 2010;50(5):526-30.
2010: Melissa Leyva-Vega; Jennifer Gerfen; Brian D Thiel; Dorota Jurkiewicz; Elizabeth B Rand; Joanna Pawlowska; Diana Kaminska; Pierre Russo; Xiaowu Gai; Ian D Krantz; Binita M Kamath; Hakon Hakonarson; Barbara A Haber; Nancy B Spinner
Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.
American journal of medical genetics. Part A 2010;152A(4):886-95.
2010: Laura K Conlin; Brian D Thiel; Carsten G Bonnemann; Livija Medne; Linda M Ernst; Elaine H Zackai; Matthew A Deardorff; Ian D Krantz; Hakon Hakonarson; Nancy B Spinner
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
Human molecular genetics 2010;19(7):1263-75.
2010: Cheryl DeScipio; Jennifer D Morrissette; Laura K Conlin; Dinah Clark; Maninder Kaur; James Coplan; Harold Riethman; Nancy B Spinner; Ian D Krantz
Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20.
American journal of medical genetics. Part A 2010;152A(2):373-82.
2010: Chad R Haldeman-Englert; Kimberly A Chapman; Hillary Kruger; Elizabeth A Geiger; Donna M McDonald-McGinn; Eric Rappaport; Elaine H Zackai; Nancy B Spinner; Tamim H Shaikh
A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.
American journal of medical genetics. Part A 2010;152A(1):196-202.
2009: Jinglan Liu; Zhe Zhang; Masashige Bando; Takehiko Itoh; Matthew A Deardorff; Dinah Clark; Maninder Kaur; Stephany Tandy; Tatsuro Kondoh; Eric Rappaport; Nancy B Spinner; Hugo Vega; Laird G Jackson; Katsuhiko Shirahige; Ian D Krantz
Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
PLoS biology 2009;7(5):e1000119.
2009: Binita M Kamath; Brian D Thiel; Xiaowu Gai; Laura K Conlin; Pedro S Munoz; Joseph Glessner; Dinah Clark; Daniel M Warthen; Tamim H Shaikh; Ercan Mihci; David A Piccoli; Struan F A Grant; Hakon Hakonarson; Ian D Krantz; Nancy B Spinner
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.
Human mutation 2009;30(3):371-8.
2008: Matthew J Ryan; Christina Bales; Anthony Nelson; Dorian M Gonzalez; Lara A Underkoffler; Michelle Segalov; Jeanne Wilson-Rawls; Susan Cole; Jennifer L Moran; Pierre Russo; Nancy B Spinner; Kenro Kusumi; Kathleen M Loomes
Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype.
Hepatology (Baltimore, Md.) 2008;48(6):1989-97.
2008: Matthew A Deardorff; Himabindu Gaddipati; Paige Kaplan; Pedro A Sanchez-Lara; Neal Sondheimer; Nancy B Spinner; Hakon Hakonarson; Can Ficicioglu; Jaya Ganesh; Thomas Markello; Brett Loechelt; Dina J Zand; Marc Yudkoff; Uta Lichter-Konecki
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Molecular genetics and metabolism 2008;94(4):498-502.
2008: M M Suhoski; E E Perez; M L Heltzer; A Laney; Lisa Shaffer; S Saitta; S Nachman; Nancy B Spinner; Carl H June; Jordan S Orange
Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells.
Clinical immunology (Orlando, Fla.) 2008;128(2):181-9.
2008: Nancy B Spinner; Sulagna C Saitta; Daniel P Delaney; Raymond Colliton; Stephen A Zderic; Eduardo Ruchelli; Elaine Zackai; Thomas F Kolon
Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring.
American journal of medical genetics. Part A 2008;146A(14):1828-31.
2008: Cheryl DeScipio; Nancy B Spinner; Maninder Kaur; Dinah Yaeger; Laura K Conlin; Anthony Ambrosini; Sufen Hu; Simei Shan; Ian D Krantz; Harold Riethman
Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.
American journal of medical genetics. Part A 2008;146A(6):730-9.
2007: Ian D Krantz; Nancy B Spinner
Novel microdeletion syndromes.
American journal of medical genetics. Part C, Seminars in medical genetics 2007;145C(4):323-6.
2006: Ryan McDaniell; Daniel M Warthen; Pedro A Sanchez-Lara; Athma Pai; Ian D Krantz; David A Piccoli; Nancy B Spinner
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
American journal of human genetics 2006;79(1):169-73.
2006: D M Warthen; E C Moore; Binita M Kamath; Jennifer J D Morrissette; P Sanchez; David A Piccoli; Ian D Krantz; P A Sanchez-Lara; Nancy B Spinner
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
Human mutation 2006;27(5):436-43.
2006: Ana Berta Sousa; Ana Medeira; Binita M Kamath; Nancy B Spinner; Isabel Cordeiro
Familial stenosis of the pulmonary artery branches with a JAG1 mutation.
Revista portuguesa de cardiologia : orgão oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2006;25(4):447-52.
2006: Elizabeth Goldmuntz; Elizabeth Moore; Nancy B Spinner
The cardiovascular manifestations of Alagille syndrome and JAGI mutations.
Methods in molecular medicine 2006;126():217-31.
2005: Ralph J DeBerardinis; Livija Medne; Nancy B Spinner; Elaine H Zackai
DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother.
American journal of medical genetics. Part A 2005;138A(2):155-9.
2005: Maninder Kaur; Cheryl DeScipio; jennifer mccallum; Dinah Yaeger; Marcella Devoto; Laird G Jackson; Nancy B Spinner; Ian D Krantz
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
American journal of medical genetics. Part A 2005;138(1):27-31.
2005: Cheryl DeScipio; Maninder Kaur; Dinah Yaeger; Jeffrey W Innis; Nancy B Spinner; Laird G Jackson; Ian D Krantz
Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.
American journal of medical genetics. Part A 2005;137A(3):276-82.
2005: Jennifer J D Morrissette; Livija Medne; Tyrone Bentley; Nancy L Owens; Elizabeth Geiger; Mary Pipan; Elaine H Zackai; Tamim H Shaikh; Nancy B Spinner
A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage.
American journal of medical genetics. Part A 2005;137(2):208-12.
2005: Karan M Emerick; Ian D Krantz; Binita M Kamath; Crystal Darling; Delilah M Burrowes; Nancy B Spinner; Peter F Whitington; David A Piccoli
Intracranial vascular abnormalities in patients with Alagille syndrome.
Journal of pediatric gastroenterology and nutrition 2005;41(1):99-107.
2005: Louis Libbrecht; Nancy B Spinner; Elizabeth C Moore; David Cassiman; Rita Van Damme-Lombaerts; Tania Roskams
Peripheral bile duct paucity and cholestasis in the liver of a patient with Alagille syndrome: further evidence supporting a lack of postnatal bile duct branching and elongation.
The American journal of surgical pathology 2005;29(6):820-6.
2005: Cheryl DeScipio; Lori Schneider; Terri L Young; Nora Wasserman; Dinah Yaeger; Fengmin Lu; Patricia G Wheeler; Marc S Williams; Lynn Bason; Lori Jukofsky; Ammini Menon; Ryan Geschwindt; Albert E Chudley; Jorge Saraiva; Albert A G L Schinzel; Agnès Guichet; William E Dobyns; Annick Toutain; Nancy B Spinner; Ian D Krantz
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
American journal of medical genetics. Part A 2005;134A(1):3-11.
2004: Douglas R Stewart; Alina Huang; Francesca Faravelli; Britt-Marie Anderlid; Livija Medne; Karen L Ciprero; Maninder Kaur; Elena Rossi; Romano Tenconi; Magnus Nordenskjöld; Karen W Gripp; Linda Nicholson; Wendy S Meschino; Esther Capua; Oliver W J Quarrell; Jonathon Flint; Mira Irons; Philip F Giampietro; David B Schowalter; Christina Zaleski; Michela Malacarne; Elaine H Zackai; Nancy B Spinner; Ian D Krantz
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
American journal of medical genetics. Part A 2004;128A(4):340-51.
2004: Binita M Kamath; Nancy B Spinner; Karan M Emerick; Albert E Chudley; Carol Booth; David A Piccoli; Ian D Krantz
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.
Circulation 2004;109(11):1354-8.
2004: Charles Venditti; Piper Hunt; Alan Donnenfeld; Elaine Zackai; Nancy B Spinner
Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.
American journal of medical genetics. Part A 2004;124A(3):274-9.
2003: Jennifer J D Morrissette; Ayala Laufer-Cahana; Livija Medne; Karen L Russell; Charles Venditti; Rochelle Kline; Elaine H Zackai; Nancy B Spinner
Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9.
American journal of medical genetics. Part A 2003;123A(3):279-84.
2003: Binita M Kamath; Lynn Bason; David A Piccoli; Ian D Krantz; Nancy B Spinner
Consequences of JAG1 mutations.
Journal of medical genetics 2003;40(12):891-5.
2003: Weizhen Xu; Claudia Robert; Paul S Thornton; Nancy B Spinner
Complete androgen insensitivity syndrome due to X chromosome inversion: a clinical report.
American journal of medical genetics. Part A 2003;120A(3):434-6.
2003: Fengmin Lu; Jennifer J D Morrissette; Nancy B Spinner
Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.
American journal of human genetics 2003;72(4):1065-70.
2002: Doff B McElhinney; Ian D Krantz; Lynn Bason; David A Piccoli; Karan M Emerick; Nancy B Spinner; Elizabeth Goldmuntz
Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.
Circulation 2002;106(20):2567-74.
2002: Binita M Kamath; Ian D Krantz; Nancy B Spinner; James Heubi; David A Piccoli
Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance.
American journal of medical genetics 2002;112(2):194-7.
2002: Ayala Laufer-Cahana; Ian D Krantz; Lynn Bason; Feng-Min Lu; David A Piccoli; Nancy B Spinner
Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion.
American journal of medical genetics 2002;112(2):190-3.
2002: Binita M Kamath; Catherine Stolle; Lynn Bason; Raymond P Colliton; David A Piccoli; Nancy B Spinner; Ian D Krantz
Craniosynostosis in Alagille syndrome.
American journal of medical genetics 2002;112(2):176-80.
2002: Binita M Kamath; Kathleen M Loomes; Rebecca J Oakey; Karan E M Emerick; Tracy Conversano; Nancy B Spinner; David A Piccoli; Ian D Krantz
Facial features in Alagille syndrome: specific or cholestasis facies?
American journal of medical genetics 2002;112(2):163-70.
2001: David A Piccoli; Nancy B Spinner
Alagille syndrome and the Jagged1 gene.
Seminars in liver disease 2001;21(4):525-34.
2001: Gillian M Barlow; Xiao-Ning Chen; Z Y Shi; Gary E Lyons; D M Kurnit; L Celle; Nancy B Spinner; Elaine Zackai; M J Pettenati; A J Van Riper; M J Vekemans; Corey H Mjaatvedt; Julie R Korenberg
Down syndrome congenital heart disease: a narrowed region and a candidate gene.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(2):91-101.
2001: JD Morrissette; L Celle; Nancy L Owens; C L Shields; Elaine H Zackai; Nancy B Spinner
Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere.
American journal of medical genetics 2001;99(1):21-8.
2001: JD Morrissette; Raymond P Colliton; Nancy B Spinner
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
Human molecular genetics 2001;10(4):405-13.
2001: Raymond P Colliton; Lynn Bason; F M Lu; David A Piccoli; Ian D Krantz; Nancy B Spinner
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Human mutation 2001;17(2):151-2.
2001: Nancy B Spinner; Raymond P Colliton; Cécile Crosnier; Ian D Krantz; michelle hadchouel; Michèle Meunier-Rotival
Jagged1 mutations in alagille syndrome.
Human mutation 2001;17(1):18-33.
2000: Mandy L Heritage; John C MacMillan; Raymond P Colliton; Anna Genin; Nancy B Spinner; Gregory J Anderson
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.
Human mutation 2000;16(5):408-16.
2000: Kevin K Anbari; L A Ierardi-Curto; Jeff Silber; N Asada; Nancy B Spinner; Elaine H Zackai; Jean B Belasco; JD Morrissette; John P Dormans
Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome.
Clinical orthopaedics and related research 2000;(378):213-23.
2000: Jeffrey E Ming; N Blagowidow; J H Knoll; L Rollings; P Fortina; Donna M McDonald-McGinn; Nancy B Spinner; Elaine H Zackai
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.
American journal of medical genetics 2000;92(1):19-24.
2000: Nesrin Ozören; M J Fisher; Kunhong Kim; CX Liu; Anna Genin; Y Shifman; David T Dicker; Nancy B Spinner; NA Lisitsyn; Wafik S El-Deiry
Homozygous deletion of the death receptor DR4 gene in a nasopharyngeal cancer cell line is associated with TRAIL resistance.
International journal of oncology 2000;16(5):917-25.
2000: Nancy B Spinner
CADASIL: Notch signaling defect or protein accumulation problem?
The Journal of clinical investigation 2000;105(5):561-2.
1999: Carolyn A Felix; MR Hosler; Diana J Slater; Maureen D Megonigal; Brian D Lovett; TM Williams; Peter C Nowell; Nancy B Spinner; Nancy L Owens; J Hoxie; C M Croce; Beverly J Lange; Eric F Rappaport
Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 1999;4(4):269-83.
1999: Ian D Krantz; David A Piccoli; Nancy B Spinner
Clinical and molecular genetics of Alagille syndrome.
Current opinion in pediatrics 1999;11(6):558-64.
1999: Kathleen M Loomes; Lara A Underkoffler; J Morabito; S Gottlieb; David A Piccoli; Nancy B Spinner; H Scott Baldwin; Rebecca J Oakey
The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome.
Human molecular genetics 1999;8(13):2443-9.
1999: Ian D Krantz; R Smith; Raymond P Colliton; H Tinkel; E H Zackai; David A Piccoli; Elizabeth Goldmuntz; Nancy B Spinner
Jagged1 mutations in patients ascertained with isolated congenital heart defects.
American journal of medical genetics 1999;84(1):56-60.
1999: P Ordentlich; Michael Downes; Wen Xie; Anna Genin; Nancy B Spinner; Ronald M Evans
Unique forms of human and mouse nuclear receptor corepressor SMRT.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(6):2639-44.
1999: Karan M Emerick; Elizabeth B Rand; Elizabeth Goldmuntz; Ian D Krantz; Nancy B Spinner; David A Piccoli
Features of Alagille syndrome in 92 patients: frequency and relation to prognosis.
Hepatology (Baltimore, Md.) 1999;29(3):822-9.
1999: Jozef Gecz; Elizabeth Baker; A Donnelly; Jeffrey E Ming; Donna M McDonald-McGinn; Nancy B Spinner; E H Zackai; Grant R Sutherland; John C Mulley
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient.
Human genetics 1999;104(1):56-63.
1998: Y Peng; Anna Genin; Nancy B Spinner; RH Diamond; Rebecca Taub
The gene encoding human nuclear protein tyrosine phosphatase, PRL-1. Cloning, chromosomal localization, and identification of an intron enhancer.
The Journal of biological chemistry 1998;273(27):17286-95.
1998: Ian D Krantz; Raymond P Colliton; Anna Genin; Elizabeth B Rand; Linheng Li; David A Piccoli; Nancy B Spinner
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
American journal of human genetics 1998;62(6):1361-9.
1997: Carolyn A Felix; C S Kim; Maureen D Megonigal; Diana J Slater; DH Jones; Nancy B Spinner; T Stump; MR Hosler; Peter C Nowell; Beverly J Lange; Eric F Rappaport
Panhandle polymerase chain reaction amplifies MLL genomic translocation breakpoint involving unknown partner gene.
Blood 1997;90(12):4679-86.
1997: Gen Sheng Wu; Timothy F Burns; E Robert McDonald; W Jiang; Raymond De Meng; I D Krantz; Gary D Kao; D D Gan; J Y Zhou; Ruth J Muschel; S R Hamilton; Nancy B Spinner; S Markowitz; G Wu; Wafik S El-Deiry
KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene.
Nature genetics 1997;17(2):141-3.
1997: S G Ryan; Phillip F Chance; C H Zou; Nancy B Spinner; J A Golden; S Smietana
Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.
Nature genetics 1997;17(1):92-5.
1997: Y Peng; Emily Schwarz; Mitchell Lazar; Anna Genin; Nancy B Spinner; Rebecca Taub
Cloning, human chromosomal assignment, and adipose and hepatic expression of the CL-6/INSIG1 gene.
Genomics 1997;43(3):278-84.
1997: Linheng Li; Ian D Krantz; Y Deng; Anna Genin; AB Banta; Colin C Collins; M Qi; Barbara J Trask; Wen-Lin Kuo; JF Cochran; T Costa; M E Pierpont; Elizabeth B Rand; David A Piccoli; Leroy Hood; Nancy B Spinner
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
Nature genetics 1997;16(3):243-51.
1997: T Oda; Abdel G Elkahloun; B L Pike; K Okajima; Ian D Krantz; Anna Genin; David A Piccoli; Paul S Meltzer; Nancy B Spinner; Francis S Collins; Settara C Chandrasekharappa
Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
Nature genetics 1997;16(3):235-42.
1997: Ian D Krantz; Elizabeth B Rand; Anna Genin; P Hunt; M Jones; A A Louis; J M Graham; S Bhatt; David A Piccoli; Nancy B Spinner
Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization.
American journal of medical genetics 1997;70(1):80-6.
1997: TJ Wright; DO Ricke; K Denison; S Abmayr; Philip D Cotter; Kurt Hirschhorn; M Keinänen; Donna McDonald-McGinn; M Somer; Nancy B Spinner; T Yang-Feng; Elaine Zackai; Michael R Altherr
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.
Human molecular genetics 1997;6(2):317-24.
1997: John E Zimmerman; Quang T Bui; E Steingrímsson; D L Nagle; W Fu; Anna Genin; Nancy B Spinner; Neal G Copeland; N A Jenkins; Maja Bucan; Nancy M Bonini
Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene.
Genome research 1997;7(2):128-41.
1997: Ian D Krantz; David A Piccoli; Nancy B Spinner
Alagille syndrome.
Journal of medical genetics 1997;34(2):152-7.
1996: P M Bingham; Nancy B Spinner; L Sovinsky; E H Zackai; Phillip F Chance
Infantile spasms associated with proximal duplication of chromosome 15q.
Pediatric neurology 1996;15(2):163-5.
1996: Craig T Basson; Calum A MacRae; M Schoenberg-Fejzo; Cynthia C Morton; Nancy B Spinner; Anna Genin; E Krug; Jonathan G Seidman; Christine E Seidman
Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130.
Genomics 1996;35(3):628-31.
1996: JE Pellegrino; Rhonda E Schnur; L Boghosian-Sell; G Strathdee; J Overhauser; Nancy B Spinner; T Stump; K Grace; E H Zackai
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.
Human genetics 1996;97(4):532-6.
1996: JE Pellegrino; L Pellegrino; Nancy B Spinner; J Sladky; Phillip F Chance; E H Zackai
Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.
American journal of medical genetics 1996;61(4):377-81.
1995: Elizabeth B Rand; Nancy B Spinner; David A Piccoli; P F Whitington; Rebecca Taub
Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.
American journal of human genetics 1995;57(5):1068-73.
1995: JE Pellegrino; Rhonda E Schnur; R Kline; E H Zackai; Nancy B Spinner
Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?
Human genetics 1995;96(4):485-9.
1995: Nancy B Spinner; E Zackai; S D Cheng; JH Knoll
Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13.
American journal of medical genetics 1995;57(1):61-5.
1995: Nancy B Spinner; K R Grace; N L Owens; L Sovinsky; JE Pellegrino; D McDonald-McGinn; E Zackai
Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism.
American journal of medical genetics 1995;56(1):22-4.
1995: G T Berry; J J Mallee; H Moo Kwon; JS Rim; W R Mulla; Maximilian Muenke; Nancy B Spinner
The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21.
Genomics 1995;25(2):507-13.
1994: S T Lee; Robert D Nicholls; Rhonda E Schnur; L C Guida; J Lu-Kuo; Nancy B Spinner; E H Zackai; Richard A Spritz
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).
Human molecular genetics 1994;3(11):2047-51.
1994: S D Cheng; Nancy B Spinner; E H Zackai; JH Knoll
Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.
American journal of human genetics 1994;55(4):753-9.
1994: Nancy B Spinner; Elizabeth B Rand; Paolo Fortina; Anna Genin; Rebecca Taub; A Semeraro; David A Piccoli
Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.
American journal of human genetics 1994;55(2):238-43.
1993: Nathaniel H Robin; M Magnusson; D McDonald-McGinn; E H Zackai; Nancy B Spinner
De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3)(q25.1q26.1).
Clinical genetics 1993;44(6):335-7.
1993: S D McLean; H M Saal; Nancy B Spinner; B S Emanuel; Deborah A Driscoll
Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype.
American journal of diseases of children (1960) 1993;147(11):1212-6.
1993: David F Callen; H Eyre; S Lane; Y Shen; I Hansmann; Nancy B Spinner; E Zackai; D McDonald-McGinn; S Schuffenhauer; J Wauters
High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.
Journal of medical genetics 1993;30(10):828-32.
1993: Nancy B Spinner; Jaclyn A Biegel; L Sovinsky; D McDonald-McGinn; K Rehberg; A H Parmiter; E H Zackai
46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization.
American journal of medical genetics 1993;46(1):95-7.
1993: Rhonda E Schnur; A J Herzberg; Nancy B Spinner; J A Kant; M Magnusson; D McDonald-McGinn; K Rehberg; Paul J Honig; E H Zackai
Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q.
Journal of the American Academy of Dermatology 1993;28(2 Pt 2):364-70.
1992: Deborah A Driscoll; Nancy B Spinner; Marcia L Budarf; D M McDonald-McGinn; E H Zackai; R B Goldberg; R J Shprintzen; H M Saal; Jonathan (Jon) Zonana; M C Jones
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
American journal of medical genetics 1992;44(2):261-8.
1992: F J Ramos; Beverly S Emanuel; Nancy B Spinner
Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome.
American journal of medical genetics 1992;42(6):835-8.
1992: Nancy B Spinner; Z Gibas; R Kline; B Berger; L Jackson
Placental mosaicism in a case of 46,XY,-22,+t(22;22)(p11;q11) or i(22q) diagnosed at amniocentesis.
Prenatal diagnosis 1992;12(1):47-51.
1991: Nancy B Spinner; D L Eunpu; J R Austria; P Mamunes
Holoprosencephaly in a newborn girl with 46,XX,i(18q).
American journal of medical genetics 1991;39(1):11-2.
1989: Nancy B Spinner; D L Eunpu; R D Schmickel; E H Zackai; D McEldrew; G R Bunin; H McDermid; B S Emanuel
The role of cytologic NOR variants in the etiology of trisomy 21.
American journal of human genetics 1989;44(5):631-8.
1987: Nancy B Spinner; Beverly S Emanuel; Eric Vonderheid; Peter C Nowell
Chronic myelomonocytic leukemia in a patient with a familial t(6;16)(q13;q22) translocation.
Cancer genetics and cytogenetics 1987;29(1):159-64.