Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

473 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V. Michot C, et al. Eur J Hum Genet. 2014 Nov;22(11):1272-7. doi: 10.1038/ejhg.2013.288. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424121 Free PMC article.
Upper limb malformations in DiGeorge syndrome.
Cormier-Daire V, Iserin L, Théophile D, Sidi D, Vervel C, Padovani JP, Vekemans M, Munnich A, Lyonnet S. Cormier-Daire V, et al. Am J Med Genet. 1995 Mar 13;56(1):39-41. doi: 10.1002/ajmg.1320560111. Am J Med Genet. 1995. PMID: 7747784
Craniofacial anomalies and malformations in respiratory chain deficiency.
Cormier-Daire V, Rustin P, Rötig A, Chrétien D, Le Merrer M, Belli D, Le Goff A, Hubert P, Ricour C, Munnich A. Cormier-Daire V, et al. Am J Med Genet. 1996 Dec 30;66(4):457-63. doi: 10.1002/(SICI)1096-8628(19961230)66:4<457::AID-AJMG15>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8989468
Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.
Cormier-Daire V, Le Merrer M, Gigarel N, Morichon N, Prieur M, Lyonnet S, Vekemans M, Munnich A. Cormier-Daire V, et al. Am J Med Genet. 1997 Mar 17;69(2):166-8. doi: 10.1002/(sici)1096-8628(19970317)69:2<166::aid-ajmg9>3.0.co;2-n. Am J Med Genet. 1997. PMID: 9056554
Increased paternal age in CHARGE association.
Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A. Tellier AL, et al. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897
Features of DiGeorge syndrome and CHARGE association in five patients.
de Lonlay-Debeney P, Cormier-Daire V, Amiel J, Abadie V, Odent S, Paupe A, Couderc S, Tellier AL, Bonnet D, Prieur M, Vekemans M, Munnich A, Lyonnet S. de Lonlay-Debeney P, et al. J Med Genet. 1997 Dec;34(12):986-9. doi: 10.1136/jmg.34.12.986. J Med Genet. 1997. PMID: 9429139 Free PMC article.
Genetic heterogeneity of Meckel syndrome.
Roume J, Ma HW, Le Merrer M, Cormier-Daire V, Girlich D, Genin E, Munnich A. Roume J, et al. J Med Genet. 1997 Dec;34(12):1003-6. doi: 10.1136/jmg.34.12.1003. J Med Genet. 1997. PMID: 9429143 Free PMC article.
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V. Belin V, et al. Nat Genet. 1998 May;19(1):67-9. doi: 10.1038/ng0198-67. Nat Genet. 1998. PMID: 9590292
473 results