Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Lina Finkel"'
Autor:
Marie-France Portnoï, Azarnouche Ardalan, Gilles Roger, Jean-Louis Taillemite, Francis Gold, Nicolas Gruchy, Sarah Ducrocq, Lina Finkel, Valérie Malan, Valérie Biran-Mucignat, Sandrine Marlin, Fanny Lebas
Publikováno v:
American Journal of Medical Genetics Part A. :47-51
Twenty-one patients, including our two cases, with variable clinical phenotype, ranging from mild learning disability to severe congenital malformations or overlapping features with DiGeorge/velocardiofacial syndromes (DG/VCFS), have been shown to ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d31485681f677412e4801090c3bc44b
https://doi.org/10.1002/ajmg.a.30847
https://doi.org/10.1002/ajmg.a.30847
Autor:
N. Bourcigaux, S. Christin-Maitre, Moncef Benkhalifa, Lina Finkel, Maud Pasquier, Gérard Tachdjian, Ghislaine Rousseau, Marie-France Portnoï, Azzedine Aboura, Tabassome Simon
Publikováno v:
Human reproduction (Oxford, England). 23(1)
Background Premature ovarian failure (POF) is defined as amenorrhoea for >6 months, occurring before the age of 40, with an FSH serum level in the menopausal range. Although Xq deletions have been known for a long time to be associated with POF, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50cedd8f5a1f3898388facdec9af32c5
https://pubmed.ncbi.nlm.nih.gov/17981816
https://pubmed.ncbi.nlm.nih.gov/17981816
Autor:
Marie-France Portnoï, Christèle Dubourg, Yves Le Bouc, Françoise Denoyelle, Nicolas Gruchy, Jean-Pierre Siffroi, Sylvie Odent, Lina Finkel, Muriel Houang, Sandrine Marlin
Publikováno v:
Clinical dysmorphology. 16(4)
The phenotype of monosomy 18p varies widely, the main clinical manifestations being mental and growth retardation, and craniofacial dysmorphism. Clinical features also include growth hormone (GH) deficiency, or holoprosencephaly (HPE). Haploinsuffici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25727acc74f5dc14363dbf938ad36d1b
https://pubmed.ncbi.nlm.nih.gov/17786116
https://pubmed.ncbi.nlm.nih.gov/17786116
Autor:
Gérard Tachdjian, Azzedine Aboura, Marie-France Portnoï, Maud Pasquier, Nathalie Bourcigaux, Tabassome Simon, Ghislaine Rousseau, Lina Finkel, Moncef Benkhalifa, Sophie Christin-Maitre
Publikováno v:
Human Reproduction; Jan2008, Vol. 23 Issue 1, p222-222, 1p