van Essen AJ - Search Results

1

Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature.

Keaton AA, Solomon BD, van Essen AJ, Pfleghaar KM, Slama MA, Martin JA, Muenke M. Keaton AA, et al. Among authors: van essen aj. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):170-5. doi: 10.1002/ajmg.c.30251. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104609 Free PMC article. Review.

2

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.

Kauvar EF, Solomon BD, Curry CJ, van Essen AJ, Janssen N, Dutra A, Roessler E, Muenke M. Kauvar EF, et al. Among authors: van essen aj. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):158-69. doi: 10.1002/ajmg.c.30235. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104613 Free PMC article. Review.

3

Malpuech syndrome: three patients and a review.

Kerstjens-Frederikse WS, Brunner HG, van Dael CM, van Essen AJ. Kerstjens-Frederikse WS, et al. Among authors: van essen aj, van dael cm. Am J Med Genet A. 2005 May 1;134(4):450-3. doi: 10.1002/ajmg.a.30662. Am J Med Genet A. 2005. PMID: 15793834 Review.

4

Ectrodactyly with fibular aplasia: a separate entity?

Menke LA, Bijlsma EK, van Essen AJ, van den Boogaard MJ, van Rijn RR, Cobben JM. Menke LA, et al. Among authors: van essen aj, van den boogaard mj, van rijn rr. Eur J Med Genet. 2008 Sep-Oct;51(5):488-96. doi: 10.1016/j.ejmg.2008.04.001. Epub 2008 May 2. Eur J Med Genet. 2008. PMID: 18547886

5

Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?

Kroes HY, Olney RS, Rosano A, Liu Y, Castilla EE, Cocchi G, De Vigan C, Martínez-Frías ML, Mastroiacovo P, Merlob P, Mutchinick O, Ritvanen A, Stoll C, van Essen AJ, Cobben JM, Cornel MC. Kroes HY, et al. Among authors: van essen aj. Am J Med Genet A. 2004 Aug 30;129A(2):149-55. doi: 10.1002/ajmg.a.30176. Am J Med Genet A. 2004. PMID: 15316969

6

Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries.

van Essen AJ, Schoots CJ, van Lingen RA, Mourits MJ, Tuerlings JH, Leegte B. van Essen AJ, et al. Among authors: van lingen ra. Am J Med Genet. 1993 Aug 1;47(1):85-8. doi: 10.1002/ajmg.1320470117. Am J Med Genet. 1993. PMID: 8368259 Review.

7

The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).

Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A. Malfait F, et al. Among authors: van essen aj. Am J Med Genet A. 2004 Nov 15;131(1):18-28. doi: 10.1002/ajmg.a.30299. Am J Med Genet A. 2004. PMID: 15389701 Free article.

8

Perlman syndrome: four additional cases and review.

Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ. Henneveld HT, et al. Among authors: van essen aj, van lingen ra. Am J Med Genet. 1999 Oct 29;86(5):439-46. Am J Med Genet. 1999. PMID: 10508986 Review.

9

11q- syndrome: three cases and a review of the literature.

Leegte B, Kerstjens-Frederikse WS, Deelstra K, Begeer JH, van Essen AJ. Leegte B, et al. Among authors: van essen aj. Genet Couns. 1999;10(3):305-13. Genet Couns. 1999. PMID: 10546104 Review.

10

A Hirschsprung disease locus at 22q11?

Kerstjens-Frederikse WS, Hofstra RM, van Essen AJ, Meijers JH, Buys CH. Kerstjens-Frederikse WS, et al. Among authors: van essen aj. J Med Genet. 1999 Mar;36(3):221-4. J Med Genet. 1999. PMID: 10204849 Free PMC article.

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