Hoogeboom J - Search Results

1

Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive Urioste syndrome.

van Haelst MM, Hoogeboom J, Galjaard RJ, Kleijer WJ, den Hollander NS, de Krijger RR, Hennekam RC, Niermeijer MF. van Haelst MM, et al. Among authors: hoogeboom j. Am J Med Genet. 2001 Nov 15;104(1):65-8. doi: 10.1002/ajmg.1518.abs. Am J Med Genet. 2001. PMID: 11746030

2

Familial gigantism caused by an NSD1 mutation.

van Haelst MM, Hoogeboom JJ, Baujat G, Brüggenwirth HT, Van de Laar I, Coleman K, Rahman N, Niermeijer MF, Drop SL, Scambler PJ. van Haelst MM, et al. Among authors: hoogeboom jj. Am J Med Genet A. 2005 Nov 15;139(1):40-4. doi: 10.1002/ajmg.a.30973. Am J Med Genet A. 2005. PMID: 16222665

3

Unexpected life-threatening complications in Kabuki syndrome.

van Haelst MM, Brooks AS, Hoogeboom J, Wessels MW, Tibboel D, de Jongste JC, den Hollander JC, Bongers-Schokking JJ, Niermeijer MF, Willems PJ. van Haelst MM, et al. Among authors: hoogeboom j. Am J Med Genet. 2000 Sep 11;94(2):170-3. doi: 10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10982974

4

Benign hereditary chorea of early onset maps to chromosome 14q.

de Vries BB, Arts WF, Breedveld GJ, Hoogeboom JJ, Niermeijer MF, Heutink P. de Vries BB, et al. Among authors: hoogeboom jj. Am J Hum Genet. 2000 Jan;66(1):136-42. doi: 10.1086/302725. Am J Hum Genet. 2000. PMID: 10631144 Free PMC article.

5

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.

Galjaard RJ, Kostakoglu N, Hoogeboom JJ, Breedveld GJ, van der Linde HC, Hovius SE, Oostra BA, Sandkuijl LA, Akarsu AN, Heutink P. Galjaard RJ, et al. Among authors: hoogeboom jj. Eur J Hum Genet. 2001 Sep;9(9):653-8. doi: 10.1038/sj.ejhg.5200692. Eur J Hum Genet. 2001. PMID: 11571552 Review.

6

Kabuki syndrome: a review study of three hundred patients.

Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. Wessels MW, et al. Among authors: hoogeboom j. Clin Dysmorphol. 2002 Apr;11(2):95-102. doi: 10.1097/00019605-200204000-00004. Clin Dysmorphol. 2002. PMID: 12002156 Review.

7

Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.

Potuijt JWP, Hoogeboom J, de Graaff E, van Nieuwenhoven CA, Galjaard RJH. Potuijt JWP, et al. Among authors: hoogeboom j. J Med Genet. 2020 Oct;57(10):660-663. doi: 10.1136/jmedgenet-2019-106685. Epub 2020 Mar 16. J Med Genet. 2020. PMID: 32179704 Free PMC article.

8

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G. Kievit A, et al. Among authors: hoogeboom j. Eur J Hum Genet. 2018 Feb;26(2):210-219. doi: 10.1038/s41431-017-0010-5. Epub 2018 Jan 18. Eur J Hum Genet. 2018. PMID: 29348693 Free PMC article.

9

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia.

Ott CE, Hein H, Lohan S, Hoogeboom J, Foulds N, Grünhagen J, Stricker S, Villavicencio-Lorini P, Klopocki E, Mundlos S. Ott CE, et al. Among authors: hoogeboom j. J Med Genet. 2012 Jul;49(7):437-41. doi: 10.1136/jmedgenet-2012-100825. Epub 2012 Jun 20. J Med Genet. 2012. PMID: 22717651

10

Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome.

Brooks AS, van Dooren M, Hoogeboom J, Gischler S, Willems PJ, Tibboel D. Brooks AS, et al. Among authors: hoogeboom j. Clin Dysmorphol. 2002 Apr;11(2):151-3. doi: 10.1097/00019605-200204000-00019. Clin Dysmorphol. 2002. PMID: 12002152

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