Hennekam RC - Search Results

1

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

2

Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.

Kuijpers TW, Alders M, Tool AT, Mellink C, Roos D, Hennekam RC. Kuijpers TW, et al. Among authors: hennekam rc. Blood. 2005 Jul 1;106(1):356-61. doi: 10.1182/blood-2004-11-4371. Epub 2005 Mar 15. Blood. 2005. PMID: 15769891 Free article.

3

Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome.

Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC. Nannenberg EA, et al. Among authors: hennekam rc. Am J Med Genet A. 2005 Feb 15;133A(1):90-2. doi: 10.1002/ajmg.a.30536. Am J Med Genet A. 2005. PMID: 15637710 Review.

4

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.

Kuijpers TW, Ridanpää M, Peters M, de Boer I, Vossen JM, Pals ST, Kaitila I, Hennekam RC. Kuijpers TW, et al. Among authors: hennekam rc. J Med Genet. 2003 Oct;40(10):761-6. doi: 10.1136/jmg.40.10.761. J Med Genet. 2003. PMID: 14569125 Free PMC article. No abstract available.

5

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC. Alders M, et al. Among authors: hennekam rc. Hum Genet. 2014 Sep;133(9):1161-7. doi: 10.1007/s00439-014-1456-y. Epub 2014 Jun 7. Hum Genet. 2014. PMID: 24913602

6

PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

Hopman SM, Van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RC, Merks JH. Hopman SM, et al. Among authors: hennekam rc. Am J Med Genet A. 2012 Jul;158A(7):1719-23. doi: 10.1002/ajmg.a.35406. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628360

7

Variants in KAT6A and pituitary anomalies.

Zwaveling-Soonawala N, Maas SM, Alders M, Majoie CB, Fliers E, van Trotsenburg ASP, Hennekam RCM. Zwaveling-Soonawala N, et al. Am J Med Genet A. 2017 Sep;173(9):2562-2565. doi: 10.1002/ajmg.a.38330. Epub 2017 Jun 21. Am J Med Genet A. 2017. PMID: 28636259 No abstract available.

8

Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

Nolte JW, Alders M, Karssemakers LHE, Becking AG, Hennekam RCM. Nolte JW, et al. Int J Oral Maxillofac Surg. 2020 Nov;49(11):1464-1469. doi: 10.1016/j.ijom.2020.02.002. Epub 2020 Apr 3. Int J Oral Maxillofac Surg. 2020. PMID: 32249036

9

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study; Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC. Menke LA, et al. Among authors: hennekam rc. Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27311832

10

Mutations in IRS4 are associated with central hypothyroidism.

Heinen CA, de Vries EM, Alders M, Bikker H, Zwaveling-Soonawala N, van den Akker ELT, Bakker B, Hoorweg-Nijman G, Roelfsema F, Hennekam RC, Boelen A, van Trotsenburg ASP, Fliers E. Heinen CA, et al. Among authors: hennekam rc. J Med Genet. 2018 Oct;55(10):693-700. doi: 10.1136/jmedgenet-2017-105113. Epub 2018 Jul 30. J Med Genet. 2018. PMID: 30061370 Free PMC article.

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