van Haeringen A - Search Results

1

A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures.

van Haeringen A, Hurst JA, Savidge R, Baraitser M. van Haeringen A, et al. J Med Genet. 1990 Feb;27(2):127-9. doi: 10.1136/jmg.27.2.127. J Med Genet. 1990. PMID: 2319580 Free PMC article.

2

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.

van Slobbe M, van Haeringen A, Vissers LELM, Bijlsma EK, Rutten JW, Suerink M, Nibbeling EAR, Ruivenkamp CAL, Koene S. van Slobbe M, et al. Among authors: van haeringen a. Eur J Pediatr. 2024 Jan;183(1):345-355. doi: 10.1007/s00431-023-05279-4. Epub 2023 Oct 27. Eur J Pediatr. 2024. PMID: 37889289 Free PMC 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

Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype.

Lindeman-Kusse MC, Van Haeringen A, Hoorweg-Nijman JJ, Brunner HG. Lindeman-Kusse MC, et al. Among authors: van haeringen a. Am J Med Genet. 1996 Dec 2;66(1):104-12. doi: 10.1002/(SICI)1096-8628(19961202)66:1<104::AID-AJMG28>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8957526

5

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.

6

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.

7

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.

Bhuiyan ZA, Klein M, Hammond P, van Haeringen A, Mannens MM, Van Berckelaer-Onnes I, Hennekam RC. Bhuiyan ZA, et al. Among authors: van haeringen a, van berckelaer onnes i. J Med Genet. 2006 Jul;43(7):568-75. doi: 10.1136/jmg.2005.038240. Epub 2005 Oct 19. J Med Genet. 2006. PMID: 16236812 Free PMC article.

8

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA. Bijlsma EK, et al. Among authors: van essen aj, van haeringen a. Eur J Med Genet. 2009 Mar-Jun;52(2-3):77-87. doi: 10.1016/j.ejmg.2009.03.006. Epub 2009 Mar 21. Eur J Med Genet. 2009. PMID: 19306953

9

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

Gijsbers AC, Lew JY, Bosch CA, Schuurs-Hoeijmakers JH, van Haeringen A, den Hollander NS, Kant SG, Bijlsma EK, Breuning MH, Bakker E, Ruivenkamp CA. Gijsbers AC, et al. Among authors: van haeringen a. Eur J Hum Genet. 2009 Nov;17(11):1394-402. doi: 10.1038/ejhg.2009.74. Epub 2009 May 13. Eur J Hum Genet. 2009. PMID: 19436329 Free PMC article.

10

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Among authors: van haeringen a. Eur J Med Genet. 2010 Sep-Oct;53(5):227-33. doi: 10.1016/j.ejmg.2010.06.003. Epub 2010 Jun 11. Eur J Med Genet. 2010. PMID: 20542150

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