Verloes A - Search Results

1

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

Di Donato N, Rump A, Koenig R, Der Kaloustian VM, Halal F, Sonntag K, Krause C, Hackmann K, Hahn G, Schrock E, Verloes A. Di Donato N, et al. Among authors: verloes a. Eur J Hum Genet. 2014 Feb;22(2):179-83. doi: 10.1038/ejhg.2013.130. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756437 Free PMC article.

2

Numerical syndromology: a mathematical approach to the nosology of complex phenotypes.

Verloes A. Verloes A. Am J Med Genet. 1995 Feb 13;55(4):433-43. doi: 10.1002/ajmg.1320550410. Am J Med Genet. 1995. PMID: 7762583

3

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.

4

Brachymorphism-onychodysplasia-dysphalangism syndrome.

Verloes A, Bonneau D, Guidi O, Berthier M, Oriot D, Van Maldergem L, Koulischer L. Verloes A, et al. J Med Genet. 1993 Feb;30(2):158-61. doi: 10.1136/jmg.30.2.158. J Med Genet. 1993. PMID: 8445623 Free PMC article.

5

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

6

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.

Titomanlio L, Giurgea I, Baumann C, Elmaleh M, Sachs P, Chalard F, Aboura A, Verloes A. Titomanlio L, et al. Among authors: verloes a. Eur J Hum Genet. 2006 Aug;14(8):971-4. doi: 10.1038/sj.ejhg.5201635. Epub 2006 May 17. Eur J Hum Genet. 2006. PMID: 16724010

7

CHARGE syndrome: an update.

Sanlaville D, Verloes A. Sanlaville D, et al. Among authors: verloes a. Eur J Hum Genet. 2007 Apr;15(4):389-99. doi: 10.1038/sj.ejhg.5201778. Epub 2007 Feb 14. Eur J Hum Genet. 2007. PMID: 17299439 Review.

8

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D. Delahaye A, et al. Among authors: verloes a. Clin Genet. 2007 Aug;72(2):112-21. doi: 10.1111/j.1399-0004.2007.00821.x. Clin Genet. 2007. PMID: 17661815

9

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H. Nava C, et al. Among authors: verloes a. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. Epub 2007 Aug 17. J Med Genet. 2007. PMID: 17704260 Free PMC article.

10

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

Narumi Y, Aoki Y, Niihori T, Sakurai M, Cavé H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y. Narumi Y, et al. Among authors: verloes a. J Hum Genet. 2008;53(9):834-841. doi: 10.1007/s10038-008-0320-0. Epub 2008 Jul 24. J Hum Genet. 2008. PMID: 18651097

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