van Haeringen A - Search Results

1

Congenital hypoplastic anemia: another example of autosomal dominant transmission.

Gojic V, van't Veer-Korthof ET, Bosch LJ, Puyn WH, van Haeringen A. Gojic V, et al. Among authors: van haeringen a, van t veer korthof et. Am J Med Genet. 1994 Mar 1;50(1):87-9. doi: 10.1002/ajmg.1320500119. Am J Med Genet. 1994. PMID: 8160759

2

Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.

Gruis NA, Bavinck JN, Steijlen PM, van der Schroeff JG, van Haeringen A, Happle R, Mariman E, van Beersum SE, Uitto J, Vermeer BJ, et al. Gruis NA, et al. Among authors: van beersum se, van haeringen a, van der schroeff jg. J Invest Dermatol. 1992 Nov;99(5):528-30. doi: 10.1111/1523-1747.ep12658066. J Invest Dermatol. 1992. PMID: 1358979 Free article.

3

Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations.

van Haeringen A, Veenstra F, Maaswinkel-Mooij PD, van de Kamp JJ. van Haeringen A, et al. Among authors: van de kamp jj. Am J Med Genet. 1989 Oct;34(2):202-6. doi: 10.1002/ajmg.1320340214. Am J Med Genet. 1989. PMID: 2816998

4

Further evidence for localization of the gene of erythrokeratodermia variabilis.

van der Schroeff JG, van Leeuwen-Cornelisse I, van Haeringen A, Went LN. van der Schroeff JG, et al. Among authors: van leeuwen cornelisse i, van haeringen a. Hum Genet. 1988 Sep;80(1):97-8. doi: 10.1007/BF00451466. Hum Genet. 1988. PMID: 3417312

5

Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/Leiden Genetics Workgroup.

DudokdeWit AC, Tibben A, Duivenvoorden HJ, Frets PG, Zoeteweij MW, Losekoot M, van Haeringen A, Niermeijer MF, Passchier J. DudokdeWit AC, et al. Among authors: van haeringen a. J Med Genet. 1997 May;34(5):382-90. doi: 10.1136/jmg.34.5.382. J Med Genet. 1997. PMID: 9152835 Free PMC article.

6

Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

Kant SG, Van Haeringen A, Bakker E, Stec I, Donnai D, Mollevanger P, Beverstock GC, Lindeman-Kusse MC, Van Ommen GJ. Kant SG, et al. Among authors: van haeringen a, van ommen gj. J Med Genet. 1997 Jul;34(7):569-72. doi: 10.1136/jmg.34.7.569. J Med Genet. 1997. PMID: 9222965 Free PMC article.

7

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML. Kant SG, et al. Among authors: van haeringen a. Am J Hum Genet. 1998 Jul;63(1):155-62. doi: 10.1086/301917. Am J Hum Genet. 1998. PMID: 9634515 Free PMC article.

8

Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters.

Hendriks YM, Laan LA, Vielvoye GJ, van Haeringen A. Hendriks YM, et al. Among authors: van haeringen a. Am J Med Genet. 1999 Sep 10;86(2):183-6. Am J Med Genet. 1999. PMID: 10449658

9

Predictive testing of 25 percent at-risk individuals for Huntington disease (1987-1997).

Maat-Kievit A, Vegter-Van Der Vlis M, Zoeteweij M, Losekoot M, van Haeringen A, Roos RA. Maat-Kievit A, et al. Among authors: van haeringen a. Am J Med Genet. 1999 Dec 15;88(6):662-8. doi: 10.1002/(sici)1096-8628(19991215)88:6<662::aid-ajmg16>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10581487

10

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH. Petrij F, et al. Among authors: van karnebeek cd, van haeringen a, van ommen gj, van der smagt jj. J Med Genet. 2000 Mar;37(3):168-76. doi: 10.1136/jmg.37.3.168. J Med Genet. 2000. PMID: 10699051 Free PMC article.

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