1 - 25 of
31
results
for author:"Chitayat D."
in Literature Citations
| 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 (4) |
| 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 (7) |
| MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. Ferrentino R., Bassi M.T., Chitayat D., Tabolacci E., Meroni G. Hum. Mutat. 28:206-207(2007) · Mapped (4) |
| 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) |
| Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Lo B., Li L., Gissen P., Christensen H., McKiernan P.J., Ye C., Abdelhaleem M., Hayes J.A., Williams M.D., Chitayat D. et al. Blood 106:4159-4166(2005) · Mapped (4) |
| SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Kohlhase J., Chitayat D., Kotzot D., Ceylaner S., Froster U.G., Fuchs S., Montgomery T., Rosler B. Hum. Mutat. 26:176-183(2005) · Mapped (4) |
| Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Bartels C.F., Buekuelmez H., Padayatti P., Rhee D.K., van Ravenswaaij-Arts C., Pauli R.M., Mundlos S., Chitayat D., Shih L.-Y., Al-Gazali L.I. et al. Am. J. Hum. Genet. 75:27-34(2004) · UniProtKB (1) · Mapped (2) |
| Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. Feigenbaum A., Moore R., Clarke J., Hewson S., Chitayat D., Ray P.N., Stockley T.L. Am. J. Med. Genet. A 124A:142-147(2004) · Mapped (2) |
| X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. De Falco F., Cainarca S., Andolfi G., Ferrentino R., Berti C., Rodriguez Criado G., Rittinger O., Dennis N., Odent S., Rastogi A. et al. Am. J. Med. Genet. A 120A:222-228(2003) · Mapped (4) |
| Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Irrthum A., Devriendt K., Chitayat D., Matthijs G., Glade C., Steijlen P.M., Fryns J.-P., Van Steensel M.A.M., Vikkula M. Am. J. Hum. Genet. 72:1470-1478(2003) · UniProtKB (1) |
| Human chromosome 7: DNA sequence and biology. Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al. Science 300:767-772(2003) · UniProtKB (658) |
| Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Beltran-Valero de Bernabe D., Currier S., Steinbrecher A., Celli J., van Beusekom E., van der Zwaag B., Kayserili H., Merlini L., Chitayat D., Dobyns W.B. et al. Am. J. Hum. Genet. 71:1033-1043(2002) · UniProtKB (1) · Mapped (16) |
| Expression of cystic fibrosis transmembrane conductance regulator during early human embryo development. Ben-Chetrit A., Antenos M., Jurisicova A., Pasyk E.A., Chitayat D., Foskett J.K., Casper R.F. Mol. Hum. Reprod. 8:758-764(2002) · Mapped (46) |
| Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Urban Z., Riazi S., Seidl T.L., Katahira J., Smoot L.B., Chitayat D., Boyd C.D., Hinek A. Am. J. Hum. Genet. 71:30-44(2002) · Mapped (11) |
| Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Nakabayashi K., Fernandez B.A., Teshima I., Shuman C., Proud V.K., Curry C.J., Chitayat D., Grebe T., Ming J., Oshimura M. et al. |
| The mutational spectrum of human malignant autosomal recessive osteopetrosis. Sobacchi C., Frattini A., Orchard P., Porras O., Tezcan I., Andolina M., Babul-Hirji R., Baric I., Canham N., Chitayat D. et al. Hum. Mol. Genet. 10:1767-1773(2001) · UniProtKB (1) · Mapped (12) |
| p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. van Bokhoven H., Hamel B.C.J., Bamshad M., Sangiorgi E., Gurrieri F., Duijf P.H.G., Vanmolkot K.R.J., van Beusekom E., van Beersum S.E.C., Celli J. et al. Am. J. Hum. Genet. 69:481-492(2001) · UniProtKB (1) |
| The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Gedeon A.K., Tiller G.E., Le Merrer M., Heuertz S., Tranebjaerg L., Chitayat D., Robertson S., Glass I.A., Savarirayan R., Cole W.G. et al. Am. J. Hum. Genet. 68:1386-1397(2001) · UniProtKB (1) |
| A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. Roifman C.M., Zhang J., Chitayat D., Sharfe N. Blood 96:2803-2807(2000) · UniProtKB (1) |
| CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Zhou G., Chen Y., Zhou L., Thirunavukkarasu K., Hecht J., Chitayat D., Gelb B.D., Pirinen S., Berry S.A., Greenberg C.R. et al. Hum. Mol. Genet. 8:2311-2316(1999) · UniProtKB (1) |
| Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Gong Y., Krakow D., Marcelino J., Wilkin D., Chitayat D., Babul-Hirji R., Hudgins L., Cremers C.W., Cremers F.P.M., Brunner H.G. et al. Nat. Genet. 21:302-304(1999) · UniProtKB (1) |
| Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. Park E.-S., Putnam E.A., Chitayat D., Child A., Milewicz D.M. Am. J. Med. Genet. 78:350-355(1998) · UniProtKB (1) |
