Hennekam R - Search Results

1

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N. Navarro CL, et al. Among authors: hennekam r. Hum Mol Genet. 2004 Oct 15;13(20):2493-503. doi: 10.1093/hmg/ddh265. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317753

2

Skin mastocytosis, hearing loss and mental retardation.

Hennekam RC, Beemer FA. Hennekam RC, et al. Clin Dysmorphol. 1992 Apr;1(2):85-8. Clin Dysmorphol. 1992. PMID: 1345517

3

Oculocerebrocutaneous syndrome.

Bleeker-Wagemakers LM, Hamel BC, Hennekam RC, Beemer FA, Oorthuys HW. Bleeker-Wagemakers LM, et al. Among authors: hennekam rc. J Med Genet. 1990 Jan;27(1):69-70. doi: 10.1136/jmg.27.1.69. J Med Genet. 1990. PMID: 2407849 Free PMC article. Review. No abstract available.

4

Congenital hypothalamic hamartoma associated with severe midline defect: a developmental field defect. Report of a case.

Hennekam RC, Beemer FA, Van Merrienboer F, Van Ketel BA, Kramer PP. Hennekam RC, et al. Am J Med Genet Suppl. 1986;2:45-52. doi: 10.1002/ajmg.1320250608. Am J Med Genet Suppl. 1986. PMID: 3146299

5

The cerebro-costo-mandibular syndrome: third report of familial occurrence.

Hennekam RC, Beemer FA, Huijbers WA, Hustinx PA, van Sprang FJ. Hennekam RC, et al. Clin Genet. 1985 Aug;28(2):118-21. doi: 10.1111/j.1399-0004.1985.tb00370.x. Clin Genet. 1985. PMID: 3899422

6

[Dyggve-Melchior-Clausen syndrome].

Beemer FA, Hennekam RC. Beemer FA, et al. Among authors: hennekam rc. Tijdschr Kindergeneeskd. 1984 Jun;52(3):103-7. Tijdschr Kindergeneeskd. 1984. PMID: 6506057 Dutch.

7

[Thoracic pelvic phalangeal dystrophy (Jeune's syndrome)].

Hennekam RC, Beemer FA, Gerards LJ, Cats BP. Hennekam RC, et al. Tijdschr Kindergeneeskd. 1983 Jun;51(3):95-100. Tijdschr Kindergeneeskd. 1983. PMID: 6636109 Dutch.

8

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M. Bondurand N, et al. Among authors: hennekam rc. Hum Mol Genet. 1999 Sep;8(9):1785-9. doi: 10.1093/hmg/8.9.1785. Hum Mol Genet. 1999. PMID: 10441344

9

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. Melkoniemi M, et al. Among authors: hennekam r. Am J Hum Genet. 2000 Feb;66(2):368-77. doi: 10.1086/302750. Am J Hum Genet. 2000. PMID: 10677296 Free PMC article.

10

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.

Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. Goodman FR, et al. Among authors: hennekam rc. Am J Hum Genet. 2000 Jul;67(1):197-202. doi: 10.1086/302961. Epub 2000 Jun 5. Am J Hum Genet. 2000. PMID: 10839976 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

612 results

Search Page