Zobrazeno 1 - 10
of 85
pro vyhledávání: '"N. Morichon-Delvallez"'
Autor:
M.-L. Briard, N. Morichon-Delvallez
Publikováno v:
EMC - Pediatría. 41:1-13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5483ee2e9807667cc03951d77a0d7f7b
https://doi.org/10.1016/s1245-1789(06)47757-x
https://doi.org/10.1016/s1245-1789(06)47757-x
Autor:
N. Morichon-Delvallez
Publikováno v:
EMC - Ginecología-Obstetricia. 42:1-14
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27f2906d21d149f9a5e20d036a138455
https://doi.org/10.1016/s1283-081x(06)47738-9
https://doi.org/10.1016/s1283-081x(06)47738-9
Autor:
C, Ottolenghi, N, Abermil, A, Lescoat, J, Aupetit, O, Beaugendre, N, Morichon-Delvallez, D, Ricquier, B, Chadefaux-Vekemans, D, Rabier
Publikováno v:
Prenatal diagnosis. 30(1)
Normative data for amniotic fluid (AF) levels of organic acids at different gestational ages are lacking. They can provide a useful framework to investigate the accuracy of prenatal diagnosis for organic acidemias.We report on the concentration of 21
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5ddafad82ebc83d8f6f85e701d4b11c0
https://pubmed.ncbi.nlm.nih.gov/19950217
https://pubmed.ncbi.nlm.nih.gov/19950217
Autor:
M. Wekemans, Marie-Cécile Aubry, Yves Dumez, Marc Dommergues, N. Morichon-Delvallez, Dominique Mahieu-Caputo
Publikováno v:
Fetal diagnosis and therapy. 11(3)
The positive predictive value of 1st-trimester nuchal translucency for the diagnosis of fetal aneuploidy is reported to range from 19 to 72% in retrospective series and from 2.8 to 4.8% in prospective studies. In order to analyze the biases accountin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e8423271c801fc6b33c78bc4bd382d4
https://pubmed.ncbi.nlm.nih.gov/8739587
https://pubmed.ncbi.nlm.nih.gov/8739587
Autor:
N Morichon-Delvallez, M Vekemans
Publikováno v:
Archives de Pédiatrie. 2:609
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::741c99fa0eba33497a9a72a93ef35992
https://doi.org/10.1016/0929-693x(95)90292-b
https://doi.org/10.1016/0929-693x(95)90292-b
Publikováno v:
Human Genetics. 70:87-91
A deletion of band 13q21, of maternal origin, was found in a male whose wife had had two miscarriages. The proband and his mother were both phenotypically normal. Repeated studies by high resolution banding techniques failed to demonstrate a transloc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06f4ccdc302bf2fc0613dcf28e85e657
https://doi.org/10.1007/bf00389468
https://doi.org/10.1007/bf00389468
Autor:
N, Morichon-Delvallez, F, Marchand
Publikováno v:
Revue francaise de gynecologie et d'obstetrique. 80(5)
Two new cases of paracentric inversion are reported. One involved the short arm of chromosome 1 and affected two generations and the other involved the long arm of chromosome 5 and was described in 5 generations. The relationships between paracentric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::81ca86181625442a4dfea879102a2278
https://pubmed.ncbi.nlm.nih.gov/4023536
https://pubmed.ncbi.nlm.nih.gov/4023536
Publikováno v:
Annales de genetique. 31(2)
An Xq-duplication was found in a female child with multiple malformations. The family study revealed that her mother, who has a nearly normal phenotype, carries the same duplication. The karyotype of the grandmother shows the existence of a mosaicism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::10bb8a0fe0daf6e82b29c523ae8c8ee1
https://pubmed.ncbi.nlm.nih.gov/3261146
https://pubmed.ncbi.nlm.nih.gov/3261146
Publikováno v:
Journal de genetique humaine. 31(3)
A prepubertal boy with hypopituitarism, mental retardation, dysmorphia and solitary maxillary central incisor is described, karyotypic studies showed deletion of the short arm of chromosome 18 (46, XY, del (18) (p11). It is suggested that caryotypic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7189b5f1617b22fe37876747fae5fbf7
https://pubmed.ncbi.nlm.nih.gov/6655463
https://pubmed.ncbi.nlm.nih.gov/6655463
Publikováno v:
Annales de genetique. 25(4)
A 9-year-old girl with trisomy 4p and monosomy Xp by malsegregation of a maternal translocation t(X;4)(p21.2;p13) was found to have less severe clinical abnormalities and mental retardation than expected for a 4p trisomy syndrome. Height and weight w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b1154b90f68b9a161347ad5eb2e32be1
https://pubmed.ncbi.nlm.nih.gov/6985016
https://pubmed.ncbi.nlm.nih.gov/6985016