Pasquier L - Search Results

1

Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation.

Gonzales M, Heuertz S, Martinovic J, Delahaye S, Bazin A, Loget P, Pasquier L, Le Merrer M, Bonaventure J. Gonzales M, et al. Among authors: pasquier l. Clin Genet. 2005 Aug;68(2):179-81. doi: 10.1111/j.1399-0004.2005.00477.x. Clin Genet. 2005. PMID: 15996217 No abstract available.

2

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.

Pasquier L, Dubourg C, Gonzales M, Lazaro L, David V, Odent S, Encha-Razavi F. Pasquier L, et al. J Med Genet. 2005 Jan;42(1):e4. doi: 10.1136/jmg.2004.023416. J Med Genet. 2005. PMID: 15635066 Free PMC article. No abstract available.

3

Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).

Mercier S, Dubourg C, Belleguic M, Pasquier L, Loget P, Lucas J, Bendavid C, Odent S. Mercier S, et al. Among authors: pasquier l. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):191-6. doi: 10.1002/ajmg.c.30246. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104616 Review.

4

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

Petit F, Jourdain AS, Andrieux J, Baujat G, Baumann C, Beneteau C, David A, Faivre L, Gaillard D, Gilbert-Dussardier B, Jouk PS, Le Caignec C, Loget P, Pasquier L, Porchet N, Holder-Espinasse M, Manouvrier-Hanu S, Escande F. Petit F, et al. Among authors: pasquier l. Clin Genet. 2014 May;85(5):464-9. doi: 10.1111/cge.12219. Epub 2013 Jul 15. Clin Genet. 2014. PMID: 23790188

5

New insights into genotype-phenotype correlation for GLI3 mutations.

Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T. Démurger F, et al. Among authors: pasquier l. Eur J Hum Genet. 2015 Jan;23(1):92-102. doi: 10.1038/ejhg.2014.62. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736735 Free PMC article.

6

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Nizon M, Henry M, Michot C, Baumann C, Bazin A, Bessières B, Blesson S, Cordier-Alex MP, David A, Delahaye-Duriez A, Delezoïde AL, Dieux-Coeslier A, Doco-Fenzy M, Faivre L, Goldenberg A, Layet V, Loget P, Marlin S, Martinovic J, Odent S, Pasquier L, Plessis G, Prieur F, Putoux A, Rio M, Testard H, Bonnefont JP, Cormier-Daire V. Nizon M, et al. Among authors: pasquier l. Clin Genet. 2016 May;89(5):584-9. doi: 10.1111/cge.12720. Epub 2016 Feb 3. Clin Genet. 2016. PMID: 26701315 Free article.

7

Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.

Quélin C, Loget P, Rozel C, D'Hervé D, Fradin M, Demurger F, Odent S, Pasquier L, Cavé H, Marcorelles P. Quélin C, et al. Among authors: pasquier l. Eur J Med Genet. 2017 Jul;60(7):395-398. doi: 10.1016/j.ejmg.2017.03.014. Epub 2017 Apr 25. Eur J Med Genet. 2017. PMID: 28455154

8

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays.

Pasquier L, Laugel V, Lazaro L, Dollfus H, Journel H, Edery P, Goldenberg A, Martin D, Heron D, Le Merrer M, Rustin P, Odent S, Munnich A, Sarasin A, Cormier-Daire V. Pasquier L, et al. Arch Dis Child. 2006 Feb;91(2):178-82. doi: 10.1136/adc.2005.080473. Arch Dis Child. 2006. PMID: 16428367 Free PMC article.

9

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

Fallet-Bianco C, Loeuillet L, Poirier K, Loget P, Chapon F, Pasquier L, Saillour Y, Beldjord C, Chelly J, Francis F. Fallet-Bianco C, et al. Among authors: pasquier l. Brain. 2008 Sep;131(Pt 9):2304-20. doi: 10.1093/brain/awn155. Epub 2008 Jul 18. Brain. 2008. PMID: 18669490

10

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival JM, David V, Odent S, Pasquier L. Quélin C, et al. Among authors: pasquier l. Eur J Med Genet. 2009 Jan-Feb;52(1):41-6. doi: 10.1016/j.ejmg.2008.10.002. Epub 2008 Oct 31. Eur J Med Genet. 2009. PMID: 19022413

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

337 results

Search Page