Verloes A - Search Results

1

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).

Syx D, Malfait F, Van Laer L, Hellemans J, Hermanns-Lê T, Willaert A, Benmansour A, De Paepe A, Verloes A. Syx D, et al. Among authors: verloes a. Hum Genet. 2010 Jul;128(1):79-88. doi: 10.1007/s00439-010-0829-0. Epub 2010 Apr 28. Hum Genet. 2010. PMID: 20424861

RIN2 encodes the Ras and Rab interactor 2, involved in the regulation of Rab5-mediated early endocytosis. We performed a clinical, ultrastructural and molecular study in a consanguineous Algerian family with three siblings affected by a distinctive autosomal …

RIN2 encodes the Ras and Rab interactor 2, involved in the regulation of Rab5-mediated early endocytosis. We performed a clinical, ul …

2

Dermatopathological aspects of restrictive dermopathy.

Piérard-Franchimont C, Piérard GE, Hermanns-Lê T, Estrada JA, Verloes A, Mulliez N. Piérard-Franchimont C, et al. Among authors: verloes a. J Pathol. 1992 Jun;167(2):223-8. doi: 10.1002/path.1711670211. J Pathol. 1992. PMID: 1353115

3

Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.

Verloes A, Hermia JP, Galand A, Koulischer L, Dodinval P. Verloes A, et al. Am J Med Genet. 1992 Sep 1;44(1):48-51. doi: 10.1002/ajmg.1320440112. Am J Med Genet. 1992. PMID: 1519650

4

Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature.

Verloes A, Mulliez N, Gonzales M, Laloux F, Hermanns-Lê T, Piérard GE, Koulischer L. Verloes A, et al. Am J Med Genet. 1992 Jun 1;43(3):539-47. doi: 10.1002/ajmg.1320430308. Am J Med Genet. 1992. PMID: 1605246 Review.

5

Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?

van Maldergem L, Wetzburger C, Verloes A, Fourneau C, Gillerot Y. van Maldergem L, et al. Among authors: verloes a. Clin Genet. 1992 Jan;41(1):22-4. doi: 10.1111/j.1399-0004.1992.tb03622.x. Clin Genet. 1992. PMID: 1633641

6

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Verloes A, Aymé S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J. Verloes A, et al. J Med Genet. 1991 May;28(5):297-303. doi: 10.1136/jmg.28.5.297. J Med Genet. 1991. PMID: 1865466 Free PMC article. Review.

7

Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?

Verloes A. Verloes A. J Med Genet. 1993 May;30(5):425-6. doi: 10.1136/jmg.30.5.425. J Med Genet. 1993. PMID: 8320709 Free PMC article.

8

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.

Verloes A, Journel H, Elmer C, Misson JP, Le Merrer M, Kaplan J, Van Maldergem L, Deconinck H, Meire F. Verloes A, et al. Am J Med Genet. 1993 Apr 15;46(2):132-7. doi: 10.1002/ajmg.1320460206. Am J Med Genet. 1993. PMID: 8484397 Review.

9

Opitz GBBB syndrome: chromosomal evidence of an X-linked form.

Verloes A, David A, Odent S, Toutain A, André MJ, Lucas J, Le Marec B. Verloes A, et al. Am J Med Genet. 1995 Oct 23;59(1):123-8. doi: 10.1002/ajmg.1320590124. Am J Med Genet. 1995. PMID: 8849003

10

Microcephaly, muscular build, rhizomelia, and cataracts: description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology.

Verloes A, Lesenfants S, Misson JP, Galand A, Koulischer L. Verloes A, et al. Am J Med Genet. 1997 Feb 11;68(4):455-60; discussion 461. doi: 10.1002/(sici)1096-8628(19970211)68:4<455::aid-ajmg16>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9021021

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