Verloes A - Search Results

1

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. van Bokhoven H, et al. Among authors: verloes a. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17. Am J Hum Genet. 2001. PMID: 11462173 Free PMC article.

2

New oral-acral syndrome with partial agenesis of the maxillary bones.

Verloes A, Koulischer L. Verloes A, et al. Am J Med Genet. 1992 Nov 15;44(5):605-7. doi: 10.1002/ajmg.1320440514. Am J Med Genet. 1992. PMID: 1481817

3

Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.

Verloes A, Gillerot Y, Langhendries JP, Fryns JP, Koulischer L. Verloes A, et al. Am J Med Genet. 1992 Jul 1;43(4):669-77. doi: 10.1002/ajmg.1320430404. Am J Med Genet. 1992. PMID: 1621756 Review.

4

Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome?

Verloes A, Gillerot Y, Delfortrie J, Zeevaert-Arnold MT, Collard R, Koulischer L, Fryns JP. Verloes A, et al. Genet Couns. 1990;1(3-4):219-25. Genet Couns. 1990. PMID: 2098045

5

Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis.

Verloes A, David A. Verloes A, et al. Am J Med Genet. 1995 Jan 16;55(2):205-12. doi: 10.1002/ajmg.1320550211. Am J Med Genet. 1995. PMID: 7717419

6

Report from the workshop on Pallister-Hall syndrome and related phenotypes.

Biesecker LG, Abbott M, Allen J, Clericuzio C, Feuillan P, Graham JM Jr, Hall J, Kang S, Olney AH, Lefton D, Neri G, Peters K, Verloes A. Biesecker LG, et al. Among authors: verloes a. Am J Med Genet. 1996 Oct 2;65(1):76-81. doi: 10.1002/(SICI)1096-8628(19961002)65:1<76::AID-AJMG12>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8914745 No abstract available.

7

Pfeiffer syndrome type 2: further delineation and review of the literature.

Plomp AS, Hamel BC, Cobben JM, Verloes A, Offermans JP, Lajeunie E, Fryns JP, de Die-Smulders CE. Plomp AS, et al. Among authors: verloes a. Am J Med Genet. 1998 Jan 23;75(3):245-51. Am J Med Genet. 1998. PMID: 9475590 Review.

8

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review.

Odent S, Le Marec B, Toutain A, David A, Vigneron J, Tréguier C, Jouan H, Milon J, Fryns JP, Verloes A. Odent S, et al. Among authors: verloes a. Am J Med Genet. 1998 Feb 3;75(4):389-94. Am J Med Genet. 1998. PMID: 9482645 Review.

9

Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity.

Keymolen K, Van Damme-Lombaerts R, Verloes A, Fryns JP. Keymolen K, et al. Among authors: verloes a. Am J Med Genet. 2000 Jul 3;93(1):19-21. Am J Med Genet. 2000. PMID: 10861677

10

MECP2 is highly mutated in X-linked mental retardation.

Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andrès C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B. Couvert P, et al. Among authors: verloes a. Hum Mol Genet. 2001 Apr 15;10(9):941-6. doi: 10.1093/hmg/10.9.941. Hum Mol Genet. 2001. PMID: 11309367

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