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David Chitayat

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Karen Buysse; David Chitayat; William Halliday; Erik-Jan Kamsteeg; Dirk J Lefeber; Yung-Yao Lin; Gareth Powell; Moniek Riemersma; Tony Roscioli; Derek L Stemple; Ellen van Beusekom; Riyana Babul-Hirji; Susan Blaser; Christa van den Elzen; Jeroen van Reeuwijk; Gavin J Wright; Hans van Bokhoven
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
Zoran S Gucev; Meng Kian Tee; Diane K Wherrett; David Chitayat; Walter L Miller
Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure.
Gregory Ryan Handrigan; Jennelle C Hodge; Anath C Lionel; Christian R Marshall; Maury Pinsk; Riyana Babul-Hirji; Jason E Cain; David Chitayat; Sarah Dyack; Luis F Escobar; Bridget A Fernandez; McKinsey Goodenberger; Jill A Rosenfeld; Stephen W Scherer; Lisa G Shaffer; Dimitri J Stavropoulos; Joseph C Stegman; Andrea K Vaags; Verna Yiu; Norman D Rosenblum
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.

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2013: Karen Buysse; David Chitayat; William Halliday; Erik-Jan Kamsteeg; Dirk J Lefeber; Yung-Yao Lin; Gareth Powell; Moniek Riemersma; Tony Roscioli; Derek L Stemple; Ellen van Beusekom; Riyana Babul-Hirji; Susan Blaser; Christa van den Elzen; Jeroen van Reeuwijk; Gavin J Wright; Hans van Bokhoven
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
Human molecular genetics 2013;22(9):1746-54.
2013: Zoran S Gucev; Meng Kian Tee; Diane K Wherrett; David Chitayat; Walter L Miller
Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure.
The Journal of pediatrics 2013;162(4):819-22.
2013: Gregory Ryan Handrigan; Jennelle C Hodge; Anath C Lionel; Christian R Marshall; Maury Pinsk; Riyana Babul-Hirji; Jason E Cain; David Chitayat; Sarah Dyack; Luis F Escobar; Bridget A Fernandez; McKinsey Goodenberger; Jill A Rosenfeld; Stephen W Scherer; Lisa G Shaffer; Dimitri J Stavropoulos; Joseph C Stegman; Andrea K Vaags; Verna Yiu; Norman D Rosenblum
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Journal of medical genetics 2013;50(3):163-73.
2013: Magan Trottier; Rosanna Weksberg; Wendy Roberts; Stephen W Scherer; Cheryl Shuman; David Chitayat; Cheryl S Cytrynbaum; Irene Drmic; Fiona A Miller
Parents' perspectives on participating in genetic research in autism.
Journal of autism and developmental disorders 2013;43(3):556-68.
2013: Maria I New; Maryam Razzaghy Azar; Li Sun; Robert C Wilson; Moolamannil Abraham; David Chitayat; Miroslav Dumic; Brian Gonzalez; Mone Zaidi; Tony Yuen
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(7):2611-6.
2013: Frederic Jacques; Glen S Van Arsdell; David Chitayat; Lars Grosse-Wortmann; Edward J Hickey; Timothy J Bradley
Unexpected contained rupture of a ductus arteriosus aneurysm found at surgical repair in an infant with Loeys-Dietz syndrome.
The Annals of thoracic surgery 2013;95(2):710-1.
2013: Jennifer Below; David Chitayat; Daniel H Cohn; Dawn L Earl; Elaine M Faustman; Jozef L Hertecant; Deborah Krakow; Margaret J McMillin; Deborah A Nickerson; Jay Shendure; Kathryn M Shively; Joshua D Smith; Mark J Stephan; James M Swanson; Emily H Turner; Sheila Unger; Lihadh I Al-Gazali; Michael Bamshad
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
American journal of human genetics 2013;92(1):137-43.
2012: Tanya Papaz; Herschel Rosenberg; Mina Safi; John Smythe; Laura-Lee Walter; Tapas Mondal; Erwin Oechslin; Carly Ogaki; Lynn Bergin; Jennifer Breaton Kyryliuk; Liz Burrill; Catherine Chant-Gambacort; David Chitayat; Christine Dodge; Elaine Gordon; Jane Lougheed; Ashok-Kumar Manickaraj; Seema Mital
Factors influencing participation in a population-based biorepository for childhood heart disease.
Pediatrics 2012;130(5):e1198-205.
2012: Andrea Guerin; Walter H A Kahr; Dimitri J Stavropoulos; Riyana Babul-Hirji; Sébastien Chénier; Hilary Christensen; Yaser Diab; David Chitayat
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.
American journal of medical genetics. Part A 2012;158A(10):2551-6.
2012: Brian Chung; Cynthia Hawkins; Aleksander Hinek; Sarah Keating; Vibhuti Shah; Rosanna Weksberg; Susan Blaser; David Chitayat
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?
American journal of medical genetics. Part A 2012;158A(10):2373-81.
2012: Melissa T Carter; Riyana Babul-Hirji; Susan Blaser; Regan Klatt; Wendy Meschino; Jeff Milunsky; Blake Papsin; Willie Reardon; David Chitayat
Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.
American journal of medical genetics. Part A 2012;158A(8):1977-81.
2012: Sharon Moalem; Dmitri J Stavropolous; Paul Thomas; Diane Wherrett; Riyana Babul-Hirji; Darius J Bägli; David Chitayat
XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.
American journal of medical genetics. Part A 2012;158A(7):1759-64.
2012: Elaine Suk-Ying Goh; Sharan Goobie; Ron Agatep; Cesar P Canales; David Chitayat; Yigal Dror; Irene C Perez; Phillip Ruiz; Michael Sgro; Mary Shago; Katherina Walz; Grace Yoon; Roberto Mendoza-Londono
Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
American journal of medical genetics. Part A 2012;158A(7):1579-88.
2012: Lisa G Shaffer; Mordechai Shohat; Blake C Ballif; Karen Chong; Justine Coppinger; Mindy Preston Dabell; Noa Rinzler Diwan; Nicholas J Neill; Jill A Rosenfeld; David Chitayat
Referral patterns for microarray testing in prenatal diagnosis.
Prenatal diagnosis 2012;32(6):611.
2012: Kate Gardiner; Shuye Pu; Peter N Ray; Rosemary Reiss; Cheryl Shuman; Deborah Terespolsky; Berivan Baskin; Susan Blaser; David Chitayat; Sanaa Choufani; Sandra Farrell; Shoshana Wodak; Rosanna Weksberg
Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
American journal of medical genetics. Part A 2012;158A(6):1388-94.
2012: Roberto Mendoza-Londono; Laureane Mittaz; Gen Nishimura; andrea superti-furga; Sheila Unger; David Chitayat; L Lee Dupuis; Elaine Goh; Aleksander Hinek; Andrew Howard; Walter H A Kahr; Ramses Badilla-Porras; Susan Blaser; Luisa Bonafe
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
American journal of medical genetics. Part A 2012;158A(6):1344-54.
2012: Jijun Wan; Michael Yourshaw; Klaus Zerres; Manuel Castro-Gago; Zugen Chen; David Chitayat; Luitgard Graul-Neumann; Ji Eun Hong; Ronald C Kim; Andrew J Kornberg; Derek W Leong; Hafsa Mamsa; Manoj P Menezes; Stanley F Nelson; Sabine Rudnik-Schöneborn; Monique M Ryan; Noriko Salamon; Michael S Salman; Masafumi Sanefuji; Pavel Seeman; Jan Senderek; Perry B Shieh; María-Jesús Sobrido; Harry V Vinters; Arpad von Moers; Joanna C Jen
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
Nature genetics 2012;44(6):704-8.
2012: Wayne A Cabral; David Chitayat; Kelly Cushing; Serigne M Gueye; Fizza Gulamali-Majid; Adebowale Adeyemo; Joan E Bailey-Wilson; Aileen M Barnes; Lawrence C Brody; SUSAN PANNY; Forbes D Porter; Timothy R Rebbeck; Charles N Rotimi; Sarah A Tishkoff; Joan C Marini
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(5):543-51.
2012: Lisa G Shaffer; Mordechai Shohat; Blake C Ballif; Karen Chong; Justine Coppinger; Mindy Preston Dabell; Noa Rinzler Diwan; Nicholas J Neill; Jill A Rosenfeld; David Chitayat
Referral patterns for microarray testing in prenatal diagnosis.
Prenatal diagnosis 2012;32(4):344-50.
2012: Ally Murji; Andrew D Paterson; Leslie K Proctor; Rosanna Weksberg; David Chitayat; John Kingdom
Male sex bias in placental dysfunction.
American journal of medical genetics. Part A 2012;158A(4):779-83.
2012: Brian Hon-Yin Chung; Bridget Fernandez; Chumei Li; David Chitayat
Correspondence: Further studies on a kindred reported by Li 2009 as 'A new syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred'. From 'new syndrome' through EEC to ulnar mammary syndrome.
Clinical dysmorphology 2012;21(2):109-11.
2012: Amy Merrill; Haynes Robinson; Anna Sarukhanov; William R Wilcox; Natalia Camacho; David Chitayat; Cynthia J Curry; Hannah Deixler; Kristine D Estrada; Brian Idoni; Pavel Krejci; Ralph S Lachman; Karen M Lyons; Deborah Krakow
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
American journal of human genetics 2012;90(3):550-7.
2012: William T Gibson; Rebecca L Hood; Jianghong An; Riyana Babul-Hirji; Kym M Boycott; Dennis E Bulman; David Chitayat; Patrice Eydoux; Anthony P Fejes; Marco A Marra; Richard Moore; Andrew J Mungall; David D Weaver; Shing Hei Zhan; Steven J M Jones
Mutations in EZH2 cause Weaver syndrome.
American journal of human genetics 2012;90(1):110-8.
2012: Jane Gillis; Gil Gross; Lesley Turner; Charles Antzelevitch; Riyana Babul-Hirji; Susan Blaser; Elena Burashnikov; David Chitayat
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.
American journal of medical genetics. Part A 2012;158A(1):182-7.
2011: Andrew G Matthew; Christina Paradiso; Cheryl Shuman; John Trachtenberg; Lianne Trachtenberg; David Chitayat; Kristen L Currie; Antonio Finelli; Mary-Ellen Hartman; Sheri Horsburgh; Paul Ritvo
Examining risk perception among men with a family history of prostate cancer.
Patient education and counseling 2011;85(2):251-7.
2011: Marie C Injeyan; Eshetu G Atenafu; David Chitayat; Andrea Shugar; Cheryl Shuman; Amy Kaiser
Personality traits associated with genetic counselor compassion fatigue: the roles of dispositional optimism and locus of control.
Journal of genetic counseling 2011;20(5):526-40.
2011: Jeanna M McCuaig; K Joan Murphy; Barry Rosen; Cheryl Shuman; David Chitayat; Celia M T Greenwood; Susan Randall Armel
Breast and ovarian cancer: the forgotten paternal contribution.
Journal of genetic counseling 2011;20(5):442-9.
2011: David L Skidmore; Gino Somers; Susan Blaser; David Chitayat; Yenge Diambomba; Aikaterini Dimopoulou; Bjoern Fischer; William Halliday; Alek Hinek; Uwe Kornak; Edmond G Lemire; Tim Morgan; Stephen P Robertson
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
American journal of medical genetics. Part A 2011;155A(8):1848-56.
2011: Aubry Furrow; Kristi Jarvis; Nancy J Mendelsohn; Sujatha Sastry; Lisa G Shaffer; Aaron Theisen; Lea Velsher; Erawati V Bawle; David Chitayat
Duplication of the STS region in males is a benign copy-number variant.
American journal of medical genetics. Part A 2011;155A(8):1972-5.
2011: David Chitayat; Sylvie Langlois; R Douglas Wilson
Prenatal screening for fetal aneuploidy in singleton pregnancies.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC 2011;33(7):736-50.
2011: Katie Snape; Sandra Hanks; Elise Ruark; Patricio Barros-Núñez; Anna Elliott; Anne Murray; Andrew H Lane; Nora Shannon; Patrick Callier; David Chitayat; Jill Clayton-Smith; David R Fitzpatrick; David Gisselsson; Sebastien Jacquemont; Keiko Asakura-Hay; Mark A Micale; John Tolmie; Peter D Turnpenny; Michael Wright; Jenny Douglas; Nazneen Rahman
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Nature genetics 2011;43(6):527-9.
2011: Yasmin Namavar; David Chitayat; Peter G Barth; Fred van Ruissen; Marit B de Wissel; Bwee Tien Poll-The; Rachel Silver; Frank Baas
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
European journal of human genetics : EJHG 2011;19(6):724-6.
2011: Catherine Deveault; Gail Billingsley; Jacque L Duncan; Jenea Bin; Rebecca Theal; Ajoy Vincent; Karen J Fieggen; Christina Gerth; Nima Noordeh; Elias I Traboulsi; Gerald A Fishman; David Chitayat; Tanja Knueppel; José M Millán; Francis L Munier; Debra Kennedy; Samuel G Jacobson; A Micheil Innes; Grant A Mitchell; Kym Boycott; Elise Héon
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Human mutation 2011;32(6):610-9.
2011: Christopher P Barnett; David Chitayat; Timothy J Bradley; Yanting Wang; Aleksander Hinek
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
European journal of human genetics : EJHG 2011;19(6):624-33.
2011: Shailly Jain Ghai; Sarah Keating; David Chitayat
PTPN11 gene mutation associated with abnormal gonadal determination.
American journal of medical genetics. Part A 2011;155A(5):1136-9.
2011: Brian Chung; Lisa G Shaffer; Sarah Keating; Joan Johnson; Bret Casey; David Chitayat
From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders.
American journal of medical genetics. Part A 2011;155A(5):1123-8.
2011: Ann M Joseph-George; Yongshu He; Christian R Marshall; Raymond C C Wong; Jeffrey R MacDonald; Ciara A Fahey; David Chitayat; Kathy Chun; Greg Ryan; Anne M Summers; Elizabeth J T Winsor; Stephen W Scherer
Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions.
Journal of medical genetics 2011;48(5):317-22.
2011: Jose Carlos Ferreira; Sanaa Choufani; Daria Grafodatskaya; Darci T Butcher; Chunhua Zhao; David Chitayat; Cheryl Shuman; John Kingdom; Sarah Keating; Rosanna Weksberg
WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate.
Epigenetics : official journal of the DNA Methylation Society 2011;6(4):440-9.
2011: Katherine Fong; Karen Chong; Ants Toi; Tami Uster; Susan Blaser; David Chitayat
Fetal ventriculomegaly secondary to isolated large choroid plexus cysts: prenatal findings and postnatal outcome.
Prenatal diagnosis 2011;31(4):395-400.
2011: Stephen M Maricich; Kaashif A Aqeeb; Yalda Moayedi; Erin L Mathes; Millan S Patel; David Chitayat; Gilles Lyon; Jules G Leroy; Huda Y Zoghbi
Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.
Journal of child neurology 2011;26(3):288-94.
2011: Parvaz Madadi; Catherine Ciszkowski; Andrea Gaedigk; J Steven Leeder; Ronni Teitelbaum; David Chitayat; Gideon Koren
Genetic transmission of cytochrome P450 2D6 (CYP2D6) ultrarapid metabolism: implications for breastfeeding women taking codeine.
Current drug safety 2011;6(1):36-9.
2011: Diane J Allingham-Hawkins; David Chitayat; Vincenzo Cirigliano; Anne Summers; Jason Tokunaga; Elizabeth Winsor; Kathy Chun
Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(2):140-7.
2011: Arturo López Castel; Masayuki Nakamori; Stephanie Tomé; David Chitayat; Geneviève Gourdon; Charles A Thornton; Christopher E Pearson
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.
Human molecular genetics 2011;20(1):1-15.
2011: Jessie M Cameron; Valeriy Levandovskiy; Neviana Mackay; Cameron Ackerley; David Chitayat; Julian Raiman; William Halliday; Andreas Schulze; Brian H Robinson
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
Mitochondrion 2011;11(1):191-9.
2010: Jeanna M McCuaig; Celia Greenwood; Cheryl Shuman; David Chitayat; K Joan Murphy; Barry Rosen; Susan Randall Armel
Breast and ovarian cancer: Y do we forget about dad?
The lancet oncology 2010;11(12):1115-7.
2010: Yoav Yinon; David Chitayat; Susan Blaser; Mike Seed; Hagai Amsalem; Shi-Joon Yoo; Edgar T Jaeggi
Fetal cardiac tumors: a single-center experience of 40 cases.
Prenatal diagnosis 2010;30(10):941-9.
2010: Christopher P Barnett; Gregory J Wilson; David A Chiasson; Gil J Gross; Aleksander Hinek; Cynthia Hawkins; David Chitayat
Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene.
American journal of medical genetics. Part A 2010;152A(9):2409-12.
2010: John D Cleary; Stéphanie Tomé; Arturo López Castel; Gagan B Panigrahi; Laurent Foiry; Katharine A Hagerman; Hana Sroka; David Chitayat; Geneviève Gourdon; Christopher E Pearson
Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.
Nature structural & molecular biology 2010;17(9):1079-87.
2010: Chagit Klieger-Grossmann; David Chitayat; Sharon Lavign; Kelly Kao; Facundo Garcia-Bournissen; Dee Quinn; Vicky Luo; Mathew Sermer; Sara Riordan; Carl Laskin; Ilan Matok; Rafael Gorodischer; Christina Chambers; Amalia Levi; Gideon Koren
Prenatal exposure to mycophenolate mofetil: an updated estimate.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC 2010;32(8):794-7.
2010: Elizabeth J T Winsor; Hani Akoury; David Chitayat; L Steele; T L Stockley
The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis.
Prenatal diagnosis 2010;30(8):746-52.
2010: Gail Billingsley; Jenea Bin; Karen J Fieggen; Jacque L Duncan; Christina Gerth; Koji Ogata; Shoshana S Wodak; Elias I Traboulsi; Gerald A Fishman; Andrew Paterson; David Chitayat; Tanja Knueppel; José M Millán; Grant A Mitchell; Catherine Deveault; Elise Héon
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
Journal of medical genetics 2010;47(7):453-63.
2010: David Chitayat; P Glanc
Diagnostic approach in prenatally detected genital abnormalities.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2010;35(6):637-46.
2010: A M Lehman; Patrice Eydoux; D Doherty; Ian A Glass; David Chitayat; B Y H Chung; Sylvie Langlois; Siu Li Yong; R Brian Lowry; Friedhelm Hildebrandt; P Trnka
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.
American journal of medical genetics. Part A 2010;152A(6):1411-9.
2010: Jane Louise Hartley; Nicholas Constantine Zachos; Ban Dawood; Mark Donowitz; Julia Forman; Rodney J Pollitt; Neil V Morgan; Louise Tee; Paul Gissen; Walter H A Kahr; Alex S Knisely; Steve Watson; David Chitayat; Ian W Booth; Sue Protheroe; Stephen Murphy; Esther de Vries; Deirdre A Kelly; Eamonn R Maher
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
Gastroenterology 2010;138(7):2388-98, 2398.e1-2.
2010: Andrew R MacRae; Bernard N Chodirker; Gregory A Davies; Glenn E Palomaki; George J Knight; Jane Minett; Peter A Kavsak; Ants Toi; David Chitayat; Paul G Van Caeseele
Second and first trimester estimation of risk for Down syndrome: implementation and performance in the SAFER study.
Prenatal diagnosis 2010;30(5):459-66.
2010: Arie Koifman; Annette Feigenbaum; Weimin Bi; Lisa Shaffer; Jill Rosenfeld; Susan Blaser; David Chitayat
A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features.
American journal of medical genetics. Part A 2010;152A(5):1268-72.
2010: Irena Nulman; Michael Sgro; Maru Barrera; David Chitayat; John Cairney; Gideon Koren
Long-term neurodevelopment of children exposed in utero to ciclosporin after maternal renal transplant.
Paediatric drugs 2010;12(2):113-22.
2010: Yoav Yinon; John C P Kingdom; Leslie K Proctor; Edmond N Kelly; Joao L Pippi Salle; Diane Wherrett; Sarah Keating; Ori Nevo; David Chitayat
Hypospadias in males with intrauterine growth restriction due to placental insufficiency: the placental role in the embryogenesis of male external genitalia.
American journal of medical genetics. Part A 2010;152A(1):75-83.
2009: Shin-ichi Horike; Jose Carlos Ferreira; Makiko Meguro-Horike; Sanaa Choufani; Adam C Smith; Cheryl Shuman; Wendy Meschino; David Chitayat; Elaine Zackai; Stephen W Scherer; Rosanna Weksberg
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
American journal of medical genetics. Part A 2009;149A(11):2415-23.
2009: Chagit Klieger-Grossmann; Nada Djokanovic; David Chitayat; Gideon Koren
In utero exposure to therapeutic radiation for Hodgkin lymphoma.
Canadian family physician Médecin de famille canadien 2009;55(10):988-91.
2009: Edgar T Jaeggi; David Chitayat; Glenn Taylor
Atrial standstill associated with loss of atrial myocytes: a rare cause of fetal bradyarrhythmia.
Heart rhythm : the official journal of the Heart Rhythm Society 2009;6(9):1370-2.
2009: Lina Basel-Vanagaite; Lisa Shaffer; David Chitayat
Keppen-Lubinsky syndrome: Expanding the phenotype.
American journal of medical genetics. Part A 2009;149A(8):1827-9.
2009: Christopher Barnett; Jacob C Langer; Aleksander Hinek; Timothy J Bradley; David Chitayat
Looking past the lump: genetic aspects of inguinal hernia in children.
Journal of pediatric surgery 2009;44(7):1423-31.
2009: Arie Koifman; Patrick Shannon; Jhon Kingdom; David Chitayat
Diaphragmatic hernia and limb abnormalities syndrome (Froster syndrome).
Clinical dysmorphology 2009;18(3):151-3.
2009: M S Song; A Hu; U Dyamenahalli; U Dyhamenahali; David Chitayat; Elizabeth J T Winsor; Greg Ryan; Jeffrey F Smallhorn; J Barrett; Shi-Joon Yoo; Lisa K Hornberger
Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2009;33(5):552-9.
2009: Karen Chong; Sarah Keating; Stephanie Hurst; Anne Summers; Howard Berger; Gareth Seaward; Nicole Martin; Tami Friedberg; David Chitayat
Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.
Prenatal diagnosis 2009;29(5):489-94.
2009: Ants Toi; David Chitayat; Susan Blaser
Abnormalities of the foetal cerebral cortex.
Prenatal diagnosis 2009;29(4):355-71.
2009: Haley Draper; David Chitayat; Sigmund H Ein; Jacob C Langer
Long-term functional results following resection of neonatal sacrococcygeal teratoma.
Pediatric surgery international 2009;25(3):243-6.
2009: Andrew R Cullinane; Anna Straatman-Iwanowska; Jeong K Seo; Jae S Ko; Kyung S Song; Maria Gizewska; Dariusz Gruszfeld; Dorota Gliwicz; Beyhan Tuysuz; Gulin Erdemir; Rachid Sougrat; Yoshiyuki Wakabayashi; Rupert Hinds; Angela Barnicoat; Hanna Mandel; David Chitayat; Björn Fischler; Angels Garcia-Cazorla; Alex S Knisely; Deirdre A Kelly; Eamonn R Maher; Paul Gissen
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Human mutation 2009;30(2):E330-7.
2009: Janet A Buchanan; Andrew R Carson; David Chitayat; David Malkin; M Stephen Meyn; Peter N Ray; Cheryl Shuman; Rosanna Weksberg; Stephen W Scherer
The cycle of genome-directed medicine.
Genome medicine 2009;1(2):16.
2009: M Rohrbach; David Chitayat; Gustavo Maegawa; Sara Shanske; G Davidzon; K Chong; J T R Clarke; Ants Toi; M Tarnopolsky; B Robinson; Susan Blaser
Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.
Fetal diagnosis and therapy 2009;25(2):177-82.
2009: Charis Kepron; Andrea Blumenthal; David Chitayat; Ernest Cutz; andrea superti-furga; Sarah Keating
An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2009;12(1):53-8.
2008: David Chitayat; Sarah Keating; Dina J Zand; Teresa Costa; Elaine H Zackai; Earl Silverman; George Tiller; Sheila Unger; Stephen Miller; John Kingdom; Ants Toi; Cynthia J R Curry
Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases.
American journal of medical genetics. Part A 2008;146A(23):3038-53.
2008: Elena Tsangaris; Sally-Lin Adams; Grace Yoon; David Chitayat; Peter Lansdorp; Inderjeet Dokal; Yigal Dror
Ataxia and pancytopenia caused by a mutation in TINF2.
Human genetics 2008;124(5):507-13.
2008: Marzena Gajecka; Reem Saadeh; Katherine L Mackay; Caron D Glotzbach; Krystyna Spodar; David Chitayat; Lisa Shaffer
Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13).
American journal of medical genetics. Part A 2008;146A(21):2777-84.
2008: Nanette Okun; Anne M Summers; Barry Hoffman; Tianhua Huang; Elizabeth Winsor; David Chitayat; A Staines; Jo-Ann Johnson
Prospective experience with integrated prenatal screening and first trimester combined screening for trisomy 21 in a large Canadian urban center.
Prenatal diagnosis 2008;28(11):987-92.
2008: Brigitte Simon-Bouy; Agnès Taillandier; Delphine Fauvert; Isabelle Brun-Heath; Jean-Louis Serre; Carmen G Armengod; Martin G Bialer; Michèle Mathieu; Jacques Cousin; David Chitayat; Jan Liebelt; Barbara Feldman; Marion Gérard-Blanluet; Stefani Körtge-Jung; Cath King; Hannele Laivuori; Martine Le Merrer; Sarju Mehta; Christina Jern; Saba Sharif; Fabienne Prieur; Gabriele Gillessen-Kaesbach; Andreas Zankl; Etienne Mornet
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.
Prenatal diagnosis 2008;28(11):993-8.
2008: Marzena Gajecka; Andrew Gentles; Albert Tsai; David Chitayat; Katherine L Mackay; Caron D Glotzbach; Michael R Lieber; Lisa Shaffer
Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13).
Genome research 2008;18(11):1733-42.
2008: Sylvie Langlois; Jason C Ford; David Chitayat; Valerie A Désilets; Sandra A Farrell; Michael Geraghty; Tanya Nelson; Sarah M Nikkel; Andrea Shugar; David Skidmore; Victoria M Allen; François Audibert; Claire Blight; Alain Gagnon; Jo-Ann Johnson; R Douglas Wilson; Philip Wyatt
Carrier screening for thalassemia and hemoglobinopathies in Canada.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC 2008;30(10):950-71.
2008: Aleksander Hinek; Shailly Jain; Glenn Taylor; David Nykanen; David Chitayat
High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita.
American journal of medical genetics. Part A 2008;146A(19):2520-7.
2008: Prakesh S Shah; Prashanth Murthy; David Skidmore; Lisa Shaffer; Bassem A Bejjani; David Chitayat
Williams syndrome in a preterm infant with phenotype of Alagille syndrome.
American journal of medical genetics. Part A 2008;146A(18):2407-11.
2008: Ashley J Robinson; Susan Blaser; Ants Toi; David Chitayat; Sophie Pantazi; Sarah Keating; Sandra Viero; Greg Ryan
MRI of the fetal eyes: morphologic and biometric assessment for abnormal development with ultrasonographic and clinicopathologic correlation.
Pediatric radiology 2008;38(9):971-81.
2008: Lin Guo; Sanaa Choufani; Jose Carlos Ferreira; Adam Smith; David Chitayat; Cheryl Shuman; Ruchita Uxa; Sarah Keating; John Kingdom; Rosanna Weksberg
Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.
Developmental biology 2008;320(1):79-91.
2008: Edgar Jaeggi; David Chitayat; Fraser Golding; Peter Kim; Shi-Joon Yoo
Prenatal diagnosis of topsy-turvy heart.
Cardiology in the young 2008;18(3):337-42.
2008: Keith Jarvi; David Chitayat
The genetics you never knew: a genetics primer.
The Urologic clinics of North America 2008;35(2):243-56, ix.
2008: Fionnuala M McAuliffe; David Chitayat; W Halliday; S Keating; V Shah; M Fink; O Nevo; G Ryan; P Shannon; S Blaser
Rhombencephalosynapsis: prenatal imaging and autopsy findings.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2008;31(5):542-8.
2008: Sylvia Bähring; Martin Kann; Yvette Neuenfeld; Maolian Gong; David Chitayat; Hakan R Toka; Okan Toka; Ghislaine Plessis; Philipp Maass; Anita Rauch; Atakan Aydin; Friedrich C Luft
Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA.
Hypertension 2008;51(2):426-31.
2008: Manuela Morleo; Daniela Iaconis; David Chitayat; Ivana Peluso; Rosalia Marzella; Alessandra Renieri; Francesca Mari; Brunella Franco
Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.
Molecular medicine reports 2008;1(1):33-9.
2008: Raz Somech; Gino R Somers; David Chitayat; Eyal Grunebaum; Adelle Atkinson; Elena Kolomietz; Chaim M Roifman
Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters--a new syndrome.
American journal of medical genetics. Part A 2008;146A(1):8-14.
2007: David Chitayat; Patrick Shannon; Sarah Keating; Ants Toi; Susan Blaser; Tami Friedberg; andrea superti-furga; Karen Chong; Sheila Unger
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.
American journal of medical genetics. Part A 2007;143A(24):3280-5.
2007: Adam Smith; Cheryl Shuman; David Chitayat; Leslie Steele; Peter N Ray; Jaqueline Bourgeois; Rosanna Weksberg
Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.
American journal of medical genetics. Part A 2007;143A(24):3010-5.
2007: David Sermer; Nada Quercia; Karen Chong; David Chitayat
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.
American journal of medical genetics. Part A 2007;143A(24):3286-9.
2007: Rachel F Spitzer; Diane Wherrett; David Chitayat; Terence Colgan; Jason Esli Dodge; Joao Luiz Pippi Salle; Lisa Allen
Maternal luteoma of pregnancy presenting with virilization of the female infant.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC 2007;29(10):835-40.
2007: Ashley J Robinson; Susan Blaser; Ants Toi; David Chitayat; William Halliday; Sophie Pantazi; Munire Gundogan; Suzanne Laughlin; Greg Ryan
The fetal cerebellar vermis: assessment for abnormal development by ultrasonography and magnetic resonance imaging.
Ultrasound quarterly 2007;23(3):211-23.
2007: David Chitayat; Hana Sroka; Sarah Keating; Randall S Colby; Greg Ryan; Ants Toi; Susan Blaser; Sandra Viero; Louise Devisme; Odile Boute-Bénéjean; Sylvie MANOUVRIER; Geert Mortier; Bart Loeys; Anita Rauch; Pierre Bitoun
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.
American journal of medical genetics. Part A 2007;143A(12):1268-81.
2007: Phyllis Glanc; Shalini Umranikar; David Koff; George Tomlinson; David Chitayat
Fetal sex assignment by sonographic evaluation of the pelvic organs in the second and third trimesters of pregnancy.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2007;26(5):563-9; quiz 570-1.
2007: Francesca Pasutto; Heinrich Sticht; Gerhard Hammersen; Gabriele Gillessen-Kaesbach; David R FitzPatrick; Gudrun Nürnberg; Frank Brasch; Heidemarie Schirmer-Zimmermann; John Tolmie; David Chitayat; Gunnar Houge; Lorena Fernández-Martínez; Sarah Keating; Geert Mortier; Raoul Hennekam; Axel von der Wense; Anne Slavotinek; Peter Meinecke; Pierre Bitoun; Christian Becker; Peter Nürnberg; André Reis; Anita Rauch
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.
American journal of human genetics 2007;80(3):550-60.
2007: Rosa Ferrentino; Maria Teresa Bassi; David Chitayat; Elisabetta Tabolacci; Germana Meroni
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.
Human mutation 2007;28(2):206-7.
2007: Parvaz Madadi; Gideon Koren; James Cairns; David Chitayat; Andrea Gaedigk; J Steven Leeder; Ronni Teitelbaum; Tatyana Karaskov; Katarina Aleksa
Safety of codeine during breastfeeding: fatal morphine poisoning in the breastfed neonate of a mother prescribed codeine.
Canadian family physician Médecin de famille canadien 2007;53(1):33-5.
2007: M Rohrbach; David Chitayat; James Drake; L Velsher; Wilma L Sirkin; S Blaser
Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging.
Fetal diagnosis and therapy 2007;22(2):112-5.
2006: Prakesh S Shah; K Siriwardena; G Taylor; L Steele; P Ray; Susan Blaser; David Chitayat
Sudden infant death in a patient with FGFR3 P250R mutation.
American journal of medical genetics. Part A 2006;140(24):2794-6.
2006: Shalini Umranikar; Phyllis Glanc; Sheila Unger; Sarah Keating; Katherine Fong; Christopher D Trevors; Diane Myles-Reid; David Chitayat
X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings.
Prenatal diagnosis 2006;26(13):1235-40.
2006: Gustavo Maegawa; David Chitayat; Susan Blaser; Hilary Whyte; Micki Thomas; Peter Kim; Jae Kim; Glen Taylor; Patrick J McNamara
Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?
Clinical dysmorphology 2006;15(4):191-6.
2006: Paul Gissen; Louise Tee; Colin A Johnson; Emmanuelle Genin; Almuth Caliebe; David Chitayat; Carol L Clericuzio; Jonas Denecke; Maja Di Rocco; Björn Fischler; David FitzPatrick; Angels García-Cazorla; Delphine Guyot; Sébastien Jacquemont; Sibylle Koletzko; Bruno Leheup; Hanna Mandel; Maria Teresa Vieira Sanseverino; Roderick H J Houwen; Patrick J McKiernan; Deirdre A Kelly; Eamonn R Maher
Clinical and molecular genetic features of ARC syndrome.
Human genetics 2006;120(3):396-409.
2006: Gideon Koren; James Cairns; David Chitayat; Andrea Gaedigk; Steven J Leeder
Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother.
Lancet 2006;368(9536):704.
2006: Domna-Maria Georgiou; Paschalis Nicolaou; David Chitayat; Pantelitsa Koutsou; Riyana Babul-Hirji; Jiri Vajsar; Jillian Murphy; Kyproula Christodoulou
A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2006;33(3):311-6.
2006: Andrea Milic; Susan Blaser; Ashley Robinson; Sandra Viero; William Halliday; Elizabeth J T Winsor; Ants Toi; Micki Thomas; David Chitayat
Prenatal detection of microtia by MRI in a fetus with trisomy 22.
Pediatric radiology 2006;36(7):706-10.
2006: Prakesh S Shah; Rosanna Weksberg; David Chitayat
Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome?
American journal of medical genetics. Part A 2006;140(12):1312-5.
2006: Elena Kolomietz; Tawfeg Ben-Omran; David Chitayat; Mimi Mah; Jillian Murphy; Gloria Nie; Ikuko Teshima
Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006;141B(3):214-9.
2006: Joel Fluss; Susan Blaser; David Chitayat; Hani Akoury; Phyllis Glanc; Martin Skidmore; Charles Raybaud
Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders.
Journal of child neurology 2006;21(4):320-4.
2006: Hélène Bruyère; Marsha Speevak; Elizabeth J T Winsor; B de Fréminville; Sandra A Farrell; Jean McGowan-Jordan; Barbara C McGillivray; David Chitayat; Deborah McFadden; V Adouard; D Terespolsky; F Prieur; Tapio Pantzar; Monica Hrynchak
Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.
Prenatal diagnosis 2006;26(4):324-9.
2006: Millan S Patel; Laurence E Becker; Ants Toi; Dawna L Armstrong; David Chitayat
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
American journal of medical genetics. Part A 2006;140(6):594-603.
2006: Sandeep Ghai; Katherine W Fong; Ants Toi; David Chitayat; Sophia Pantazi; Susan Blaser
Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development.
Radiographics : a review publication of the Radiological Society of North America, Inc 2006;26(2):389-405.
2006: Fawaz Alkazaleh; Vandana Chaddha; Sandra Viero; Aasim Malik; Colleen Anastasiades; Hana Sroka; David Chitayat; Ants Toi; Rory Windrim; John Kingdom
Second-trimester prediction of severe placental complications in women with combined elevations in alpha-fetoprotein and human chorionic gonadotrophin.
American journal of obstetrics and gynecology 2006;194(3):821-7.
2006: Michal J Simchen; Ants Toi; M Silver; C R Smith; Lisa K Hornberger; G Taylor; David Chitayat
Fetal cardiac calcifications: report of four prenatally diagnosed cases and review of the literature.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2006;27(3):325-30.
2006: Munire Gundogan; Katherine Fong; Sarah Keating; Jacqueline Pierre-Louis; David Chitayat
First trimester ultrasound diagnosis of lethal multiple pterygium syndrome.
Fetal diagnosis and therapy 2006;21(5):466-70.
2006: Rima Bader; Lisa K Hornberger; Larry J Nijmeh; Fawaz Al-Kazaleh; Greg Ryan; Ants Toi; Sandra Viero; Jagdish Butany; David Chitayat
Fetal pericardial teratoma: presentation of two cases and review of literature.
American journal of perinatology 2006;23(1):53-8.
2006: Patsy Lenane; Sam Cammisuli; David Chitayat; Bernice R Krafchik
What syndrome is this? KID syndrome (keratitis, ichthyosis, deafness).
Pediatric dermatology 2006;23(1):81-3.
2005: Bryan Lo; Ling Li; Paul Gissen; Hilary Christensen; Patrick J McKiernan; Charles Ye; Mohamed Abdelhaleem; Jason A Hayes; Michael D Williams; David Chitayat; Walter H A Kahr
Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis.
Blood 2005;106(13):4159-66.
2005: Matthew D Laskin; John Kingdom; Ants Toi; David Chitayat; Arne Ohlsson
Perinatal and neurodevelopmental outcome with isolated fetal ventriculomegaly: a systematic review.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2005;18(5):289-98.
2005: Fionnuala M McAuliffe; Katherine W Fong; Ants Toi; David Chitayat; Sarah Keating; Jo-Ann Johnson
Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: a feasibility study.
American journal of obstetrics and gynecology 2005;193(3 Pt 2):1260-5.
2005: Fionnuala M McAuliffe; Jean Trines; Lynne E Nield; David Chitayat; Edgar T Jaeggi; Lisa K Hornberger
Early fetal echocardiography--a reliable prenatal diagnosis tool.
American journal of obstetrics and gynecology 2005;193(3 Pt 2):1253-9.
2005: Juergen Kohlhase; David Chitayat; Dieter Kotzot; Serdar Ceylaner; Ursula G Froster; Sigrun Fuchs; Tara Montgomery; Bernd Rösler
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
Human mutation 2005;26(3):176-83.
2005: Yaron Finkelstein; David Chitayat; Tal Schechter; Sarah Keating; Ants Toi; Gideon Koren
Motherisk rounds. Warfarin embryopathy following low-dose maternal exposure.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC 2005;27(7):702-6.
2005: Prakesh S Shah; Susan Blaser; Ants Toi; Katherine Fong; Phyllis Glanc; Riyana Babul-Hirji; James Rutka; David Chitayat
Cavum veli interpositi: prenatal diagnosis and postnatal outcome.
Prenatal diagnosis 2005;25(7):539-42.
2005: Elizabeth J T Winsor; Rory Windrim; David Chitayat; Greg Ryan; Gareth Seaward; Hani Akoury
Success rate for culture of fetal postmortem tissue is dependent on the method of pregnancy termination.
Fetal diagnosis and therapy 2005;20(4):306-8.
2005: Fionnuala M McAuliffe; Elizabeth J T Winsor; David Chitayat
Tetrasomy 9p mosaicism associated with a normal phenotype.
Fetal diagnosis and therapy 2005;20(3):219-22.
2005: Elena Kolomietz; K Godbole; Elizabeth J T Winsor; T Stockley; Gareth Seaward; David Chitayat
Functional disomy of Xp: prenatal findings and postnatal outcome.
American journal of medical genetics. Part A 2005;134(4):393-8.
2005: Fionnuala M McAuliffe; Lisa K Hornberger; J Johnson; David Chitayat; G Ryan
Cardiac diverticulum with pericardial effusion: report of two new cases treated by in-utero pericardiocentesis and a review of the literature.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2005;25(4):401-4.
2005: Michael Sgro; Vibhuti Shah; Tony Barozzino; K Ibach; L Allen; David Chitayat
False diagnosis of renal agenesis on fetal MRI.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2005;25(2):197-200.
2004: Katherine W Fong; S Ghai; Ants Toi; Susan Blaser; Elizabeth J T Winsor; David Chitayat
Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2004;24(7):716-23.
2004: Fionnuala M McAuliffe; Lisa K Hornberger; Stephanie Winsor; David Chitayat; Karen Chong; Jo-Ann Johnson
Fetal cardiac defects and increased nuchal translucency thickness: a prospective study.
American journal of obstetrics and gynecology 2004;191(4):1486-90.
2004: Millan S Patel; Glenn P Taylor; Simi Bharya; Nouriya Al-Sanna'a; Ian Adatia; David Chitayat; M E Suzanne Lewis; Derek G Human
Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.
American journal of medical genetics. Part A 2004;129A(3):294-9.
2004: Cynthia F Bartels; Hulya Bükülmez; Pius S Padayatti; David K Rhee; Conny van Ravenswaaij-Arts; Richard M Pauli; Stefan Mundlos; David Chitayat; Ling-Yu Shih; Lihadh Al-Gazali; Sarina G Kant; Trevor Cole; Jenny Morton; Valérie Cormier-Daire; Laurence Faivre; Melissa Lees; Jeremy Kirk; Geert R Mortier; Jules Leroy; Bernhard Zabel; Chong A Kim; Yanick Crow; Nancy E Braverman; Focco Van Den Akker; Matthew L Warman
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
American journal of human genetics 2004;75(1):27-34.
2004: Hani Akoury; Mary E Hannah; David Chitayat; Martin Thomas; Elizabeth J T Winsor; Lorraine E Ferris; Thomas R Einarson; P Gareth Seaward; Greg Ryan; Andrew R Willan; Rory Windrim
Randomized controlled trial of misoprostol for second-trimester pregnancy termination associated with fetal malformation.
American journal of obstetrics and gynecology 2004;190(3):755-62.
2004: Annette Feigenbaum; Robert Moore; Joe Clarke; Stacy Hewson; David Chitayat; Peter N Ray; Tracy L Stockley
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.
American journal of medical genetics. Part A 2004;124A(2):142-7.
2004: Michael Sgro; S Rossetti; Tony Barozzino; Ants Toi; J Langer; P C Harris; E Harvey; David Chitayat
Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2004;23(1):73-6.
2004: Katherine W Fong; Ants Toi; Shia Salem; Lisa K Hornberger; David Chitayat; Sarah J Keating; Fionnuala M McAuliffe; Jo-Ann Johnson
Detection of fetal structural abnormalities with US during early pregnancy.
Radiographics : a review publication of the Radiological Society of North America, Inc 2004;24(1):157-74.
2003: David L Skidmore; Aditya P Pai; Ants Toi; Leslie Steele; David Chitayat
Prenatal diagnosis of Apert syndrome: report of two cases.
Prenatal diagnosis 2003;23(12):1009-13.
2003: Rima S Bader; David Chitayat; Edmond Kelly; Greg Ryan; Jeffrey F Smallhorn; Ants Toi; Lisa K Hornberger
Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex.
The Journal of pediatrics 2003;143(5):620-4.
2003: Zhi Yang; Rachel Lau; Julien L Marcadier; David Chitayat; Christopher E Pearson
Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells.
American journal of human genetics 2003;73(5):1092-105.
2003: Francesca De Falco; Silvia Cainarca; Gennaro Andolfi; Rosa Ferrentino; caterina berti; German Rodríguez Criado; Olaf Rittinger; Nick Dennis; Sylvie Odent; Amit Rastogi; Jan Liebelt; David Chitayat; Robin Winter; Harindar Jawanda; Andrea Ballabio; Brunella Franco; Germana Meroni
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
American journal of medical genetics. Part A 2003;120A(2):222-8.
2003: Anjali Sharathkumar; Melanie Kirby; Melvin Freedman; Mohamed Abdelhaleem; David Chitayat; Ikuko E Teshima; Yigal Dror
Malignant hematological disorders in children with Wolf-Hirschhorn syndrome.
American journal of medical genetics. Part A 2003;119A(2):194-9.
2003: Alexandre Irrthum; koenraad devriendt; David Chitayat; Gert Matthijs; Conrad Glade; Peter M Steijlen; Jean-Pierre Fryns; Maurice A M van Steensel; Miikka Vikkula
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
American journal of human genetics 2003;72(6):1470-8.
2003: Nathalie Lepage; David Chitayat; John Kingdom; Tianhua Huang
Association between second-trimester isolated high maternal serum maternal serum human chorionic gonadotropin levels and obstetric complications in singleton and twin pregnancies.
American journal of obstetrics and gynecology 2003;188(5):1354-9.
2003: Manohar Shroff; Susan Blaser; Vanita Jay; David Chitayat; Derek Armstrong
Basilar artery duplication associated with pituitary duplication: a new finding.
AJNR. American journal of neuroradiology 2003;24(5):956-61.
2003: Cyrus Azimi; Shelley J Kennedy; David Chitayat; Pranesh Chakraborty; Joe T R Clarke; Christopher Forrest; Ahmad S Teebi
Clinical and genetic aspects of trigonocephaly: a study of 25 cases.
American journal of medical genetics. Part A 2003;117A(2):127-35.
2003: Catherine Barrea; Shi-Joon Yoo; David Chitayat; Emanuela R Valsangiacomo; Elizabeth J T Winsor; Jeffrey F Smallhorn; Lisa K Hornberger
Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion.
Prenatal diagnosis 2003;23(1):9-15.
2002: Michal J Simchen; Ants Toi; Mark Bona; Fawaz Alkazaleh; Greg Ryan; David Chitayat
Fetal hepatic calcifications: prenatal diagnosis and outcome.
American journal of obstetrics and gynecology 2002;187(6):1617-22.
2002: Mary Shago; Michael Sgro; Tony Barozzino; Daniel Antinucci; Pranesh Chakraborty; David Chitayat; Ikuko Teshima
An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female.
American journal of medical genetics 2002;113(3):279-85.
2002: Daniel Beltrán-Valero de Bernabé; Sophie Currier; Alice Steinbrecher; Jacopo Celli; Ellen van Beusekom; Bert van der Zwaag; Hulya Kayserili; Luciano Merlini; David Chitayat; William B Dobyns; Bru Cormand; Anna-Elina Lehesjoki; Jesús Cruces; Thomas Voit; Christopher Walsh; Hans van Bokhoven; Han G Brunner
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
American journal of human genetics 2002;71(5):1033-43.
2002: David Chitayat; Sandra A Farrell; Tianhua Huang; Chris Meier; Philip Wyatt; Anne M Summers
Double-positive maternal serum screening results for down syndrome and open neural tube defects: An indicator for fetal structural or chromosomal abnormalities and adverse obstetric outcomes.
American journal of obstetrics and gynecology 2002;187(3):758-63.
2002: Avraham Ben-Chetrit; Monica Antenos; Andrea Jurisicova; Eva A Pasyk; David Chitayat; J Kevin Foskett; Robert F Casper
Expression of cystic fibrosis transmembrane conductance regulator during early human embryo development.
Molecular human reproduction 2002;8(8):758-64.
2002: Simone R F Pedra; Jeffrey F Smallhorn; Greg Ryan; David Chitayat; Glenn P Taylor; Rubina Khan; Mohamed Abdolell; Lisa K Hornberger
Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome.
Circulation 2002;106(5):585-91.
2002: Zsolt Urbán; Sheila Riazi; Thomas L Seidl; Jodi Katahira; Leslie B Smoot; David Chitayat; Charles D Boyd; Aleksander Hinek
Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.
American journal of human genetics 2002;71(1):30-44.
2002: Rosanna Weksberg; Cheryl Shuman; Oana Caluseriu; Adam Smith; Yan-Ling Fei; Joy Nishikawa; Tracy L Stockley; Lyle Best; David Chitayat; Ann Olney; Elizabeth Ives; Adele Schneider; Timothy H Bestor; Madeline Li; Paul D Sadowski; Jeremy Squire
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Human molecular genetics 2002;11(11):1317-25.
2002: Kazuhiko Nakabayashi; Bridget A Fernandez; Ikuko Teshima; Cheryl Shuman; Virginia K Proud; Cynthia J Curry; David Chitayat; Theresa Grebe; Jeffrey Ming; Mitsuo Oshimura; Makiko Meguro; Kohzoh Mitsuya; Paromita Deb-Rinker; Jo-Anne Herbrick; Rosanna Weksberg; Stephen W Scherer
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Genomics 2002;79(2):186-96.
2002: Michael Sgro; Tony Barozzino; Hisham M Mirghani; Mathew Sermer; Leah Moscato; Hani Akoury; Gideon Koren; David Chitayat
Pregnancy outcome post renal transplantation.
Teratology 2002;65(1):5-9.
2002: Gideon Koren; Tony Cohn; David Chitayat; Bhushan Kapur; Gary Remington; Diane Myles Reid; Robert B Zipursky
Use of atypical antipsychotics during pregnancy and the risk of neural tube defects in infants.
The American journal of psychiatry 2002;159(1):136-7.
2001: Adam Smith; Jeremy A Squire; Paul Thorner; Maria Zielenska; Cheryl Shuman; R Grant; David Chitayat; Joy Nishikawa; Rosanna Weksberg
Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2001;4(6):550-8.
2001: Lucy Osborne; M Li; B Pober; David Chitayat; J Bodurtha; Ariane Mandel; Teresa Costa; T Grebe; S Cox; Lap-Chee Tsui; Stephen W Scherer
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
Nature genetics 2001;29(3):321-5.
2001: Hans van Bokhoven; Ben C J Hamel; Michael Bamshad; Eugenio Sangiorgi; Fiorella Gurrieri; Pascal Duijf; Kaate R J Vanmolkot; Ellen van Beusekom; Sylvia van Beersum; Jacopo Celli; Gerard F M Merkx; R Tenconi; Jean-Pierre Fryns; Alain Verloes; Ruth Newbury-Ecob; A Raas-Rotschild; Frank Majewski; F A Beemer; Andreas R Janecke; David Chitayat; G Crisponi; Hulya Kayserili; J R Yates; Giovanni Neri; Han G Brunner
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
American journal of human genetics 2001;69(3):481-92.
2001: Madeline Li; Jeremy Squire; Cheryl Shuman; Yan-Ling Fei; J Atkin; R Pauli; Adam Smith; Joy Nishikawa; David Chitayat; Rosanna Weksberg
Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
Genomics 2001;74(3):370-6.
2001: J M Johnson; R Babul-Hirji; David Chitayat
First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2001;17(4):344-6.
2001: W Cheong Leung; David Chitayat; Gareth Seaward; Rory Windrim; Greg Ryan; J Barrett; Elizabeth J T Winsor
Role of amniotic fluid interphase fluorescence in situ hybridization (FISH) analysis in patient management.
Prenatal diagnosis 2001;21(4):327-32.
2000: Laura Y Park-Wyllie; Paolo Mazzotta; Anne L Pastuszak; Myla E Moretti; L Beique; L Hunnisett; M H Friesen; S Jacobson; Sonja Kasapinovic; D Chang; Orna Diav-Citrin; David Chitayat; Irena Nulman; Thomas R Einarson; Gideon Koren
Birth defects after maternal exposure to corticosteroids: prospective cohort study and meta-analysis of epidemiological studies.
Teratology 2000;62(6):385-92.
2000: Chaim M Roifman; J Zhang; David Chitayat; Nigel Sharfe
A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency.
Blood 2000;96(8):2803-7.
2000: M M Abdullah; Ronald V Lacro; Jeffrey F Smallhorn; David Chitayat; Mary E van der Velde; S J Yoo; L Oman-Ganes; Lisa K Hornberger
Fetal cardiac dextroposition in the absence of an intrathoracic mass: sign of significant right lung hypoplasia.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2000;19(10):669-76.
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.
2000: Peter von Dadelszen; David Chitayat; Elizabeth J T Winsor; H Cohen; C MacDonald; G Taylor; T Rose; L K Hornberger
De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.
American journal of medical genetics 2000;90(4):270-5.
2000: Jiri Vajsar; C Ackerley; David Chitayat; Lawrence E Becker
Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome.
Pediatric neurology 2000;22(2):139-43.
1999: Sara Arab; David Chitayat; H A Gardner; Elizabeth J T Winsor
Mosaicism for a small marker chromosome resulting from a familial Robertsonian translocation (21;22).
Clinical genetics 1999;56(5):362-6.
1999: Michael Sgro; Tony Barozzino; Ants Toi; J Johnson; Mathew Sermer; David Chitayat
Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 1999;14(5):356-9.
1999: K Choong; Melvin H Freedman; David Chitayat; Edmond N Kelly; G Taylor; Alvin Zipursky
Juvenile myelomonocytic leukemia and Noonan syndrome.
Journal of pediatric hematology/oncology 1999;21(6):523-7.
1999: Guang Zhou; Yuqing Chen; L Zhou; K Thirunavukkarasu; J Hecht; David Chitayat; B D Gelb; S Pirinen; S A Berry; C R Greenberg; Gerard Karsenty; Brendan Lee
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.
Human molecular genetics 1999;8(12):2311-6.
1999: Millan S Patel; John W Callahan; Sunqu Zhang; A K Chan; Sheila Unger; Alex V Levin; Marie-Anne Skomorowski; Annette Feigenbaum; K O'Brien; Jonathan Hellmann; G Ryan; L Velsher; David Chitayat
Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.
American journal of medical genetics 1999;85(1):38-47.
1999: S Friedman; Lee Ford-Jones; Ants Toi; Greg Ryan; Susan Blaser; David Chitayat
Congenital toxoplasmosis: prenatal diagnosis, treatment and postnatal outcome.
Prenatal diagnosis 1999;19(4):330-3.
1999: Yaoqin Gong; Deborah Krakow; Jose Marcelino; Douglas J Wilkin; David Chitayat; R Babul-Hirji; L Hudgins; C W Cremers; F P Cremers; H G Brunner; Kent Reinker; David L Rimoin; Daniel H Cohn; Frances R Goodman; William Reardon; M Patton; Clair A Francomano; Matthew L Warman
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
Nature genetics 1999;21(3):302-4.
1999: Yaoqin Gong; David Chitayat; B Kerr; T Chen; R Babul-Hirji; A Pal; M Reiss; Matthew L Warman
Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.
American journal of human genetics 1999;64(2):570-7.
1998: J Hamilton; David Chitayat; S Blaser; L E Cohen; J A Phillips; D Daneman
Familial growth hormone deficiency associated with MRI abnormalities.
American journal of medical genetics 1998;80(2):128-32.
1998: Jiri Vajsar; David Chitayat; Lawrence E Becker; Michael Ho; B Ben-Zeev; Venita Jay
Severe classical congenital muscular dystrophy and merosin expression.
Clinical genetics 1998;54(3):193-8.
1998: K J Harrison; Ikuko Teshima; MM Silver; Venita Jay; Sheila Unger; W P Robinson; A James; Alex Levin; David Chitayat
Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.
American journal of medical genetics 1998;79(2):103-7.
1998: R Rahmani; M Dixon; David Chitayat; E Korb; M Silver; Tony Barozzino; Ants Toi
Otocephaly: prenatal sonographic diagnosis.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 1998;17(9):595-8.
1998: N A Hung; MM Silver; David Chitayat; J Provias; Ants Toi; Venita Jay; Lawrence E Becker
Gonadoblastoid testicular dysplasia in Walker-Warburg syndrome.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 1998;1(5):393-404.
1998: Hakan R Toka; Sylvia Bähring; David Chitayat; J C Melby; R Whitehead; E Jeschke; Thomas F Wienker; Okan Toka; Herbert Schuster; Friedrich C Luft
Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension.
Annals of internal medicine 1998;129(3):204-8.
1998: D Kennedy; David Chitayat; Elizabeth J T Winsor; M Silver; Ants Toi
Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases.
American journal of medical genetics 1998;77(4):317-21.
1998: Kathy Chun; J Siegel-Bartelt; David Chitayat; J Phillips; Peter N Ray
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.
American journal of medical genetics 1998;77(3):219-24.
1998: Tony Barozzino; Michael Sgro; Ants Toi; H Akouri; S Wilson; E Yeo; S Blaser; David Chitayat
Fetal bilateral subdural haemorrhages. Prenatal diagnosis and spontaneous resolution by time of delivery.
Prenatal diagnosis 1998;18(5):496-503.
1998: David Chitayat; S Grisaru-Granovsky; G Ryan; Ants Toi; R Filler; G R Seaward; J Siegel-Bartelt; Cheryl S Cytrynbaum
Familial ileal perforation: prenatal diagnosis and postnatal follow-up.
Prenatal diagnosis 1998;18(1):78-82.
1997: A Polinkovsky; Nathaniel H Robin; J Terrig Thomas; M Irons; A Lynn; Frances R Goodman; William Reardon; S G Kant; H G Brunner; Ineke van der Burgt; David Chitayat; Julie McGaughran; Dian Donnai; Frank P Luyten; Matthew L Warman
Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
Nature genetics 1997;17(1):18-9.
1997: David Chitayat; Ants Toi; R Babul; S Blaser; S Moola; D Yarkoni; Mathew Sermer; J A Johnson; J Vasjar; I Teshima
Omphalocele in Miller-Dieker syndrome: expanding the phenotype.
American journal of medical genetics 1997;69(3):293-8.
1997: David Chitayat; M M Silver; K O'Brien; P Wyatt; J S Waye; D H Chiu; R Babul; M Thomas
Limb defects in homozygous alpha-thalassemia: report of three cases.
American journal of medical genetics 1997;68(2):162-7.
1997: Irena Nulman; Dennis Scolnik; David Chitayat; L D Farkas; Gideon Koren
Findings in children exposed in utero to phenytoin and carbamazepine monotherapy: independent effects of epilepsy and medications.
American journal of medical genetics 1997;68(1):18-24.
1996: D J Allingham-Hawkins; C A Brown; R Babul; David Chitayat; K Krekewich; Tom Humphries; Peter N Ray; Ikuko Teshima
Tissue-specific methylation differences and cognitive function in fragile X premutation females.
American journal of medical genetics 1996;64(2):329-33.
1996: Annette Feigenbaum; David Chitayat; B Robinson; D MacGregor; T Myint; G Arbus; Malgorzata J M Nowaczyk
The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.
American journal of medical genetics 1996;62(4):404-9.
1996: Ikuko Teshima; D Chadwick; David Chitayat; J Kobayashi; P Ray; C Shuman; J Siegel-Bartelt; P Strasberg; Rosanna Weksberg
FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.
American journal of medical genetics 1996;62(3):217-23.
1996: David Chitayat; R Babul; MM Silver; Venita Jay; Ikuko Teshima; P Babyn; Lawrence E Becker
Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].
American journal of medical genetics 1996;61(1):45-8.
1995: J Barret; David Chitayat; Mathew Sermer; Kofi Amankwah; R Morrow; Ants Toi; G Ryan
The prognostic factors in the prenatal diagnosis of the echogenic fetal lung.
Prenatal diagnosis 1995;15(9):849-53.
1995: David Chitayat; Ants Toi; R Babul; A Levin; J Michaud; A Summers; J Rutka; S Blaser; L E Becker
Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome.
American journal of medical genetics 1995;56(4):351-8.
1995: David Chitayat; K Hodgkinson; A Luke; Elizabeth J T Winsor; T Rose; Dagmar K Kalousek
Prenatal diagnosis and fetopathological findings in five fetuses with trisomy 9.
American journal of medical genetics 1995;56(3):247-51.
1995: David Chitayat; R H Ruvalcaba; R Babul; Ikuko Teshima; J C Posnick; M J Vekemans; H Scarpelli; H Thuline
Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.
American journal of medical genetics 1995;55(2):147-54.
1994: David Chitayat; L Moore; M R Del Bigio; D MacGregor; B Ben-Zeev; K Hodgkinson; J Deck; T Stothers; S Ritchie; Ants Toi
Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome?
American journal of medical genetics 1994;52(4):406-15.
1994: J MacKenzie; David Chitayat; Gordon A McLorie; J W Balfe; P B Pandit; S R Blecher
Penoscrotal transposition: a case report and review.
American journal of medical genetics 1994;49(1):103-7.
1993: David Chitayat; H Gruber; B J Mullen; david pauzner; Teresa Costa; R Lachman; D L Rimoin
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.
American journal of medical genetics 1993;47(2):272-7.