Verloes A - Search Results

1

Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.

Kaltenbach S, Capri Y, Rossignol S, Denjoy I, Soudée S, Aboura A, Baumann C, Verloes A. Kaltenbach S, et al. Among authors: verloes a. Clin Genet. 2013 Jul;84(1):78-81. doi: 10.1111/cge.12038. Epub 2012 Nov 14. Clin Genet. 2013. PMID: 23061425

2

Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall.

Verloes A, Massart B, Dehalleux I, Langhendries JP, Koulischer L. Verloes A, et al. Clin Genet. 1995 May;47(5):257-62. doi: 10.1111/j.1399-0004.1995.tb04307.x. Clin Genet. 1995. PMID: 7554352

3

Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae.

Verloes A, Lepage P, Baumann C, Maroteaux P, Merrer ML. Verloes A, et al. Am J Med Genet. 2002 Dec 15;113(4):362-6. doi: 10.1002/ajmg.b.10738. Am J Med Genet. 2002. PMID: 12457408

4

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.

Dupont C, Pipiras E, Chantot-Bastaraud S, Verloes A, Baumann C, Wolf JP, Benzacken B. Dupont C, et al. Among authors: verloes a. Eur J Hum Genet. 2003 Jun;11(6):452-6. doi: 10.1038/sj.ejhg.5200984. Eur J Hum Genet. 2003. PMID: 12774038

5

Severely delayed epiphyseal ossification dysplasia with normal stature.

Baumann C, Garel C, Vuillemain L, Hassan M, Verloes A. Baumann C, et al. Among authors: verloes a. Am J Med Genet A. 2003 Aug 1;120A(4):553-6. doi: 10.1002/ajmg.a.20046. Am J Med Genet A. 2003. PMID: 12884438

6

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.

Morin G, Villemain L, Baumann C, Mathieu M, Blanc N, Verloes A. Morin G, et al. Among authors: verloes a. Clin Dysmorphol. 2003 Oct;12(4):237-40. doi: 10.1097/00019605-200310000-00005. Clin Dysmorphol. 2003. PMID: 14564210 Review.

7

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A. Sznajer Y, et al. Among authors: verloes a. Eur J Pediatr. 2003 Dec;162(12):863-7. doi: 10.1007/s00431-003-1317-5. Epub 2003 Sep 30. Eur J Pediatr. 2003. PMID: 14648217 Review.

8

Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?

Verloes A, Misson JP, Gillet P, Baumann C, Spiritus M, Deprez M. Verloes A, et al. Ann Genet. 2003 Oct-Dec;46(4):449-52. doi: 10.1016/s0003-3995(03)00018-2. Ann Genet. 2003. PMID: 14659780

9

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

Keren B, Hadchouel A, Saba S, Sznajer Y, Bonneau D, Leheup B, Boute O, Gaillard D, Lacombe D, Layet V, Marlin S, Mortier G, Toutain A, Beylot C, Baumann C, Verloes A, Cavé H; French Collaborative Noonan Study Group. Keren B, et al. Among authors: verloes a. J Med Genet. 2004 Nov;41(11):e117. doi: 10.1136/jmg.2004.021451. J Med Genet. 2004. PMID: 15520399 Free PMC article. No abstract available.

10

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.

Brémond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A. Brémond-Gignac D, et al. Among authors: verloes a. Eur J Hum Genet. 2005 Apr;13(4):409-13. doi: 10.1038/sj.ejhg.5201358. Eur J Hum Genet. 2005. PMID: 15702131

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