Hennekam RC - Search Results

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 DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A. Pasutto F, et al. Among authors: hennekam rc. Am J Hum Genet. 2007 Mar;80(3):550-60. doi: 10.1086/512203. Epub 2007 Jan 29. Am J Hum Genet. 2007. PMID: 17273977 Free PMC article.

2

Familial holoprosencephaly, heart defects, and polydactyly.

Hennekam RC, van Noort G, de la Fuente AA. Hennekam RC, et al. Am J Med Genet. 1991 Nov 1;41(2):258-62. doi: 10.1002/ajmg.1320410226. Am J Med Genet. 1991. PMID: 1785646 Review.

3

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.

Hennekam RC, Geerdink RA, Hamel BC, Hennekam FA, Kraus P, Rammeloo JA, Tillemans AA. Hennekam RC, et al. Among authors: hennekam fa. Am J Med Genet. 1989 Dec;34(4):593-600. doi: 10.1002/ajmg.1320340429. Am J Med Genet. 1989. PMID: 2624276

4

The Peters'-Plus syndrome: description of 16 patients and review of the literature.

Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, Seguin JH, Weatherstone KB, Wittebol-Post D, Meinecke P. Hennekam RC, et al. Clin Dysmorphol. 1993 Oct;2(4):283-300. Clin Dysmorphol. 1993. PMID: 7508316 Review.

5

Haspeslagh syndrome without severe mental retardation and pterygia?

van Bever Y, Hennekam RC. van Bever Y, et al. Among authors: hennekam rc. Clin Genet. 1995 May;47(5):263-6. doi: 10.1111/j.1399-0004.1995.tb04308.x. Clin Genet. 1995. PMID: 7554353

6

Further delineation of the acro-renal-ocular syndrome.

Aalfs CM, van Schooneveld MJ, van Keulen EM, Hennekam RC. Aalfs CM, et al. Among authors: hennekam rc. Am J Med Genet. 1996 Mar 29;62(3):276-81. doi: 10.1002/(SICI)1096-8628(19960329)62:3<276::AID-AJMG14>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8882787

7

Autosomal dominant familial radial luxation, carpal fusion and scapular dysplasia with variable heart defects.

van Bever Y, Dijkstra PF, Hennekam RC. van Bever Y, et al. Among authors: hennekam rc. Am J Med Genet. 1996 Oct 28;65(3):213-7. doi: 10.1002/(SICI)1096-8628(19961028)65:3<213::AID-AJMG8>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 9240746

8

Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19.

O'Quinn JR, Hennekam RC, Jorde LB, Bamshad M. O'Quinn JR, et al. Among authors: hennekam rc. Am J Hum Genet. 1998 Jan;62(1):130-5. doi: 10.1086/301687. Am J Hum Genet. 1998. PMID: 9443880 Free PMC article.

9

Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6.

Groen SE, Drewes JG, de Boer EG, Hoovers JM, Hennekam RC. Groen SE, et al. Among authors: hennekam rc. Am J Med Genet. 1998 Dec 28;80(5):448-53. doi: 10.1002/(sici)1096-8628(19981228)80:5<448::aid-ajmg3>3.0.co;2-q. Am J Med Genet. 1998. PMID: 9880207

10

Familial syndromic esophageal atresia maps to 2p23-p24.

Celli J, van Beusekom E, Hennekam RC, Gallardo ME, Smeets DF, de Córdoba SR, Innis JW, Frydman M, König R, Kingston H, Tolmie J, Govaerts LC, van Bokhoven H, Brunner HG. Celli J, et al. Among authors: hennekam rc. Am J Hum Genet. 2000 Feb;66(2):436-44. doi: 10.1086/302779. Am J Hum Genet. 2000. PMID: 10677303 Free PMC article.

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