1 - 25 of 31 results for author:"Hennekam R.C.M." in Literature citations
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| Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Twigg S.R.F., Versnel S.L., Nuernberg G., Lees M.M., Bhat M., Hammond P., Hennekam R.C.M., Hoogeboom A.J., Hurst J.A., Johnson D. et al. Am. J. Hum. Genet. 84:698-705(2009) · UniProtKB (1) |
| tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Budde B.S., Namavar Y., Barth P.G., Poll-The B.T., Nuernberg G., Becker C., van Ruissen F., Weterman M.A.J., Fluiter K., te Beek E.T. et al. |
| Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Callewaert B.L., Willaert A., Kerstjens-Frederikse W.S., De Backer J., Devriendt K., Albrecht B., Ramos-Arroyo M.A., Doco-Fenzy M., Hennekam R.C.M., Pyeritz R.E. et al. Hum. Mutat. 29:150-158(2008) · UniProtKB (1) |
| Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Zweier C., Peippo M.M., Hoyer J., Sousa S., Bottani A., Clayton-Smith J., Reardon W., Saraiva J., Cabral A., Goehring I. et al. Am. J. Hum. Genet. 80:994-1001(2007) · UniProtKB (1) |
| 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) |
| Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Lesnik Oberstein S.A., Kriek M., White S.J., Kalf M.E., Szuhai K., den Dunnen J.T., Breuning M.H., Hennekam R.C.M. Am. J. Hum. Genet. 79:562-566(2006) · UniProtKB (1) |
| Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Aligianis I.A., Morgan N.V., Mione M., Johnson C.A., Rosser E., Hennekam R.C.M., Adams G., Trembath R.C., Pilz D.T., Stoodley N. et al. Am. J. Hum. Genet. 78:702-707(2006) · UniProtKB (1) |
| Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Niihori T., Aoki Y., Narumi Y., Neri G., Cave H., Verloes A., Okamoto N., Hennekam R.C.M., Gillessen-Kaesbach G., Wieczorek D. et al. |
| Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Nishimura D.Y., Swiderski R.E., Searby C.C., Berg E.M., Ferguson A.L., Hennekam R.C.M., Merin S., Weleber R.G., Biesecker L.G., Stone E.M. et al. Am. J. Hum. Genet. 77:1021-1033(2005) · UniProtKB (1) · Mapped (4) |
| Identification of mutations in CUL7 in 3-M syndrome. Huber C., Dias-Santagata D., Glaser A., O'Sullivan J., Brauner R., Wu K., Xu X., Pearce K., Wang R., Giovannucci Uzielli M.L. et al. |
| Protein-truncating mutations in ASPM cause variable reduction in brain size. Bond J., Scott S., Hampshire D.J., Springell K., Corry P., Abramowicz M.J., Mochida G.H., Hennekam R.C.M., Maher E.R., Fryns J.-P. et al. Am. J. Hum. Genet. 73:1170-1177(2003) · UniProtKB (1) · Mapped (5) |
| Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Waterham H.R., Koster J., Mooyer P., van Noort G., Kelley R.I., Wilcox W.R., Wanders R.J., Hennekam R.C.M., Oosterwijk J.C. Am. J. Hum. Genet. 72:1013-1017(2003) · UniProtKB (1) · Mapped (1) |
| Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Kalkhoven E., Roelfsema J.H., Teunissen H., den Boer A., Ariyuerek Y., Zantema A., Breuning M.H., Hennekam R.C.M., Peters D.J.M. Hum. Mol. Genet. 12:441-450(2003) · UniProtKB (1) · Mapped (4) |
| Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Mykytyn K., Nishimura D.Y., Searby C.C., Beck G., Bugge K., Haines H.L., Cornier A.S., Cox G.F., Fulton A.B., Carmi R. et al. Am. J. Hum. Genet. 72:429-437(2003) · UniProtKB (1) · Mapped (15) |
| Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Slavotinek A.M., Searby C., Al-Gazali L., Hennekam R.C.M., Schrander-Stumpel C., Orcana-Losa M., Pardo-Reoyo S., Cantani A., Kumar D., Capellini Q. et al. |
| LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Gong Y., Slee R.B., Fukai N., Rawadi G., Roman-Roman S., Reginato A.M., Wang H., Cundy T., Glorieux F.H., Lev D. et al. Cell 107:513-523(2001) · UniProtKB (1) |
| Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Waterham H.R., Koster J., Romeijn G.J., Hennekam R.C.M., Vreken P., Andersson H.C., FitzPatrick D.R., Kelley R.I., Wanders R.J.A. Am. J. Hum. Genet. 69:685-694(2001) · UniProtKB (2) · Mapped (3) |
| Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. Jira P.E., Wanders R.J.A., Smeitink J.A.M., De Jong J., Wevers R.A., Oostheim W., Tuerlings J.H.A.M., Hennekam R.C.M., Sengers R.C.A., Waterham H.R. Ann. Hum. Genet. 65:229-236(2001) · UniProtKB (1) |
| Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Luedecke H.-J., Schaper J., Meinecke P., Momeni P., Gross S., von Holtum D., Hirche H., Abramowicz M.J., Albrecht B., Apacik C. et al. Am. J. Hum. Genet. 68:81-91(2001) · UniProtKB (1) |
| Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Goodman F.R., Bacchelli C., Brady A.F., Brueton L.A., Fryns J.-P., Mortlock D.P., Innis J.W., Holmes L.B., Donnenfeld A.E., Feingold M. et al. Am. J. Hum. Genet. 67:197-202(2000) · UniProtKB (1) |
| Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia. Taillandier A., Cozien E., Muller F., Merrien Y., Bonnin E., Fribourg C., Simon-Bouy B., Serre J.L., Bieth E., Brenner R. et al. Hum. Mutat. 15:293-293(2000) · UniProtKB (1) |
| Familial syndromic esophageal atresia maps to 2p23-p24. Celli J., Van Beusekom E., Hennekam R.C.M., Gallardo M.E., Smeets D.F.C.M., Rodriguez de Cordoba S., Innis J.W., Frydman M., Konig R., Kingston H. et al. Am. J. Hum. Genet. 66:436-444(2000) · UniProtKB (1) |
| Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. Melkoniemi M., Brunner H.G., Manouvrier S., Hennekam R.C.M., Superti-Furga A., Kaeaeriaeinen H., Pauli R.M., van Essen T., Warman M.L., Bonaventure J. et al. Am. J. Hum. Genet. 66:368-377(2000) · UniProtKB (1) · Mapped (1) |
| Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Momeni P., Gloeckner G., Schmidt O., von Holtum D., Albrecht B., Gillessen-Kaesbach G., Hennekam R.C.M., Meinecke P., Zabel B., Rosenthal A. et al. |
| Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Knight S.W., Heiss N.S., Vulliamy T.J., Aalfs C.M., McMahon C., Richmond P., Jones A., Hennekam R.C.M., Poustka A., Mason P.J. et al. Br. J. Haematol. 107:335-339(1999) · UniProtKB (1) |