Hennekam RC - Search Results

1

Genetic Analyses in Small-for-Gestational-Age Newborns.

Stalman SE, Solanky N, Ishida M, Alemán-Charlet C, Abu-Amero S, Alders M, Alvizi L, Baird W, Demetriou C, Henneman P, James C, Knegt LC, Leon LJ, Mannens MMAM, Mul AN, Nibbering NA, Peskett E, Rezwan FI, Ris-Stalpers C, van der Post JAM, Kamp GA, Plötz FB, Wit JM, Stanier P, Moore GE, Hennekam RC. Stalman SE, et al. Among authors: hennekam rc. J Clin Endocrinol Metab. 2018 Mar 1;103(3):917-925. doi: 10.1210/jc.2017-01843. J Clin Endocrinol Metab. 2018. PMID: 29342293 Free article.

2

Further delineation of the partial proximal trisomy 10q syndrome.

Aalfs CM, Hoovers JM, Nieste-Otter MA, Mannens MM, Hennekam RC, Leschot NJ. Aalfs CM, et al. Among authors: hennekam rc. J Med Genet. 1995 Dec;32(12):968-71. doi: 10.1136/jmg.32.12.968. J Med Genet. 1995. PMID: 8825926 Free PMC article.

3

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.

Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM. Bliek J, et al. Among authors: hennekam rc. Hum Mol Genet. 2001 Mar 1;10(5):467-76. doi: 10.1093/hmg/10.5.467. Hum Mol Genet. 2001. PMID: 11181570

4

A locus for hereditary capillary malformations mapped on chromosome 5q.

Breugem CC, Alders M, Salieb-Beugelaar GB, Mannens MM, Van der Horst CM, Hennekam RC. Breugem CC, et al. Among authors: hennekam rc. Hum Genet. 2002 Apr;110(4):343-7. doi: 10.1007/s00439-002-0700-z. Epub 2002 Mar 2. Hum Genet. 2002. PMID: 11941483

5

Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.

Kuijpers TW, Nannenberg E, Alders M, Bredius R, Hennekam RC. Kuijpers TW, et al. Among authors: hennekam rc. Pediatrics. 2004 Sep;114(3):e387-91. doi: 10.1542/peds.2003-0651-F. Pediatrics. 2004. PMID: 15342903

6

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

van Karnebeek CD, Scheper FY, Abeling NG, Alders M, Barth PG, Hoovers JM, Koevoets C, Wanders RJ, Hennekam RC. van Karnebeek CD, et al. Among authors: hennekam rc. Am J Ment Retard. 2005 Jul;110(4):253-67. doi: 10.1352/0895-8017(2005)110[253:EOMRIC]2.0.CO;2. Am J Ment Retard. 2005. PMID: 15941363

7

Growth-reductive therapy in children with marfan syndrome.

Rozendaal L, le Cessie S, Wit JM, Hennekam RC, The Dutch Marfan Working Group. Rozendaal L, et al. Among authors: hennekam rc. J Pediatr. 2005 Nov;147(5):674-9. doi: 10.1016/j.jpeds.2005.06.011. J Pediatr. 2005. PMID: 16291362

8

Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.

Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MM, Hennekam RC. Bhuiyan ZA, et al. Among authors: hennekam rc. Eur J Hum Genet. 2007 Apr;15(4):505-8. doi: 10.1038/sj.ejhg.5201776. Epub 2007 Jan 31. Eur J Hum Genet. 2007. PMID: 17264868

9

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC. Alders M, et al. Among authors: hennekam rc, hennekam ea. Nat Genet. 2009 Dec;41(12):1272-4. doi: 10.1038/ng.484. Nat Genet. 2009. PMID: 19935664

10

The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?

Barge-Schaapveld DQ, Maas SM, Polstra A, Knegt LC, Hennekam RC. Barge-Schaapveld DQ, et al. Among authors: hennekam rc. Am J Med Genet A. 2011 May;155A(5):1066-72. doi: 10.1002/ajmg.a.33991. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465664

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