1 - 25 of 48 results for author:"Chitayat D." in Literature citations
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| Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. Mendoza-Londono R., Chitayat D., Kahr W.H., Hinek A., Blaser S., Dupuis L., Goh E., Badilla-Porras R., Howard A., Mittaz L. et al. Am. J. Med. Genet. A 158A:1344-1354(2012) · Mapped (1) |
| Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Wan J., Yourshaw M., Mamsa H., Rudnik-Schoneborn S., Menezes M.P., Hong J.E., Leong D.W., Senderek J., Salman M.S., Chitayat D. et al. |
| Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Roscioli T., Kamsteeg E.J., Buysse K., Maystadt I., van Reeuwijk J., van den Elzen C., van Beusekom E., Riemersma M., Pfundt R., Vissers L.E. et al. |
| Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Merrill A.E., Sarukhanov A., Krejci P., Idoni B., Camacho N., Estrada K.D., Lyons K.M., Deixler H., Robinson H., Chitayat D. et al. Am. J. Hum. Genet. 90:550-557(2012) · UniProtKB (1) |
| A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Cabral W.A., Barnes A.M., Adeyemo A., Cushing K., Chitayat D., Porter F.D., Panny S.R., Gulamali-Majid F., Tishkoff S.A., Rebbeck T.R. et al. Genet. Med. 14:543-551(2012) · Mapped (4) |
| Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Anderson B.H., Kasher P.R., Mayer J., Szynkiewicz M., Jenkinson E.M., Bhaskar S.S., Urquhart J.E., Daly S.B., Dickerson J.E., O'Sullivan J. et al. |
| Mutations in EZH2 cause Weaver syndrome. Gibson W.T., Hood R.L., Zhan S.H., Bulman D.E., Fejes A.P., Moore R., Mungall A.J., Eydoux P., Babul-Hirji R., An J. et al. Am. J. Hum. Genet. 90:110-118(2012) · UniProtKB (1) · Mapped (8) |
| Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Delta¹-pyrroline-5-carboxylate synthase (P5CS). Skidmore D.L., Chitayat D., Morgan T., Hinek A., Fischer B., Dimopoulou A., Somers G., Halliday W., Blaser S., Diambomba Y. et al. Am. J. Med. Genet. A 155A:1848-1856(2011) · Mapped (1) |
| Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Snape K., Hanks S., Ruark E., Barros-Nunez P., Elliott A., Murray A., Lane A.H., Shannon N., Callier P., Chitayat D. et al. |
| WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate. Ferreira J.C., Choufani S., Grafodatskaya D., Butcher D.T., Zhao C., Chitayat D., Shuman C., Kingdom J., Keating S., Weksberg R. Epigenetics 6:440-449(2011) · Mapped (2) |
| Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. Maricich S.M., Aqeeb K.A., Moayedi Y., Mathes E.L., Patel M.S., Chitayat D., Lyon G., Leroy J.G., Zoghbi H.Y. J. Child Neurol. 26:288-294(2011) · Mapped (2) |
| BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Deveault C., Billingsley G., Duncan J.L., Bin J., Theal R., Vincent A., Fieggen K.J., Gerth C., Noordeh N., Traboulsi E.I. et al. Hum. Mutat. 32:610-619(2011) · UniProtKB (10) |
| Genetic transmission of cytochrome P450 2D6 (CYP2D6) ultrarapid metabolism: implications for breastfeeding women taking codeine. Madadi P., Ciszkowski C., Gaedigk A., Leeder J.S., Teitelbaum R., Chitayat D., Koren G. Curr Drug Saf 6:36-39(2011) · Mapped (18) |
| Genotype-phenotype analysis of the branchio-oculo-facial syndrome. Milunsky J.M., Maher T.M., Zhao G., Wang Z., Mulliken J.B., Chitayat D., Clemens M., Stalker H.J., Bauer M., Burch M. et al. Am. J. Med. Genet. A 155A:22-32(2011) · Mapped (5) |
| Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. Cameron J.M., Levandovskiy V., Mackay N., Ackerley C., Chitayat D., Raiman J., Halliday W.H., Schulze A., Robinson B.H. Mitochondrion 11:191-199(2011) · Mapped (2) |
| Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene. Barnett C.P., Wilson G.J., Chiasson D.A., Gross G.J., Hinek A., Hawkins C., Chitayat D. Am. J. Med. Genet. A 152:2409-2412(2010) · UniProtKB (1) · Mapped (5) |
| Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Billingsley G., Bin J., Fieggen K.J., Duncan J.L., Gerth C., Ogata K., Wodak S.S., Traboulsi E.I., Fishman G.A., Paterson A. et al. J. Med. Genet. 47:453-463(2010) · Mapped (8) |
| Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Hartley J.L., Zachos N.C., Dawood B., Donowitz M., Forman J., Pollitt R.J., Morgan N.V., Tee L., Gissen P., Kahr W.H. et al. Gastroenterology 138:2388-2398(2010) · UniProtKB (1) |
| Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Lacbawan F., Solomon B.D., Roessler E., El-Jaick K., Domene S., Velez J.I., Zhou N., Hadley D., Balog J.Z., Long R. et al. J. Med. Genet. 46:389-398(2009) · Mapped (3) |
| Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Chong K., Keating S., Hurst S., Summers A., Berger H., Seaward G., Martin N., Friedberg T., Chitayat D. Prenat. Diagn. 29:489-494(2009) |
| Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. Cullinane A.R., Straatman-Iwanowska A., Seo J.K., Ko J.S., Song K.S., Gizewska M., Gruszfeld D., Gliwicz D., Tuysuz B., Erdemir G. et al. Hum. Mutat. 30:E330-E337(2009) · UniProtKB (1) |
| Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Revencu N., Boon L.M., Mulliken J.B., Enjolras O., Cordisco M.R., Burrows P.E., Clapuyt P., Hammer F., Dubois J., Baselga E. et al. Hum. Mutat. 29:959-965(2008) · Mapped (8) |
| Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Pasutto F., Sticht H., Hammersen G., Gillessen-Kaesbach G., FitzPatrick D.R., Nuernberg G., Brasch F., Schirmer-Zimmermann H., Tolmie J.L., Chitayat D. et al. Am. J. Hum. Genet. 80:550-560(2007) · UniProtKB (1) · Mapped (9) |
| Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Crow Y.J., Leitch A., Hayward B.E., Garner A., Parmar R., Griffith E., Ali M., Semple C., Aicardi J., Babul-Hirji R. et al. |
| Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. Seifert W., Holder-Espinasse M., Spranger S., Hoeltzenbein M., Rossier E., Dollfus H., Lacombe D., Verloes A., Chrzanowska K.H., Maegawa G.H.B. et al. J. Med. Genet. 43:E22-E22(2006) · UniProtKB (1) |