Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Nicole Morichon"'
Autor:
Alexandra Benachi, Chantal Esculpavit, Corinne Antignac, Tania Attié-Bitach, Michel Vekemans, Rémi Salomon, Marie-Claire Gubler, Jelena Martinovic-Bouriel, Nicole Morichon, Férechté Encha-Razavi, Nora Brahimi, Maryse Bonnière
Publikováno v:
American Journal of Medical Genetics Part A. :830-835
Papillorenal syndrome also known as renal-coloboma syndrome (OMIM 120330) is an autosomal dominant condition comprising optic nerve anomaly and renal oligomeganephronic hypoplasia. This reduced number of nephron generations with compensatory glomerul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ee4ab463a42250e42a93a3c368eebc4
https://doi.org/10.1002/ajmg.a.33133
https://doi.org/10.1002/ajmg.a.33133
Autor:
Vincent Morinière, Anne-Sophie Lebre, Olivier Dunand, Nicole Morichon-Delvallez, Corinne Antignac, Albert Bensman
Publikováno v:
European Journal of Human Genetics. 17:1019-1023
We report maternal uniparental disomy of chromosome 17 (mat UPD17) in a 2.5-year-old girl presenting infantile cystinosis. This patient was homozygous for the 57 kb deletion encompassing the CTNS gene, frequently found in patients from the European o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac0432beb9376af02af662ddd291f2e1
https://doi.org/10.1038/ejhg.2009.13
https://doi.org/10.1038/ejhg.2009.13
Autor:
Catherine Turleau, Nicole Morichon-Delvallez, Jean-Paul Bonnefont, Damien Sanlaville, Marie-Cécile Aubry, Alexandra Benachi, Valérie Malan, C. Fekete-Nihoul, Michel Vekemans, R. Gesny
Publikováno v:
Human Reproduction. 22:1037-1041
The phenotypic spectrum of 46,XX/46,XY chimeric patients is variable. It ranges from normal male or female genitalia to different degrees of ambiguous genitalia. Chimerism results from the amalgamation of two different zygotes in a single embryo, whe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df076443aca50bc5b8f6b37ac8fcf71c
https://doi.org/10.1093/humrep/del480
https://doi.org/10.1093/humrep/del480
Autor:
Catherine Fallet-Bianco, Michel Vekemans, Chantal Esculpavit, Jerôme Le Bidois, Véronique Mirlesse, Alexandra Benachi, Christelle Golzio, Nicole Morichon, Férechté Encha-Razavi, Bettina Grattagliano-Bessières, Heather C. Etchevers, Maryse Bonnière, Valérie Malan, Jelena Martinovic-Bouriel, Céline Bernabé-Dupont, Tania Attié-Bitach, Marie-Cécile Aubry
Publikováno v:
American Journal of Medical Genetics Part A. :219-228
We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym “PMD” (Pulmonary agenesis, Microphthalmia, Diaph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce61b1e5e1f98c9a846fae5c02b3e0d
https://doi.org/10.1002/ajmg.a.31599
https://doi.org/10.1002/ajmg.a.31599
Publikováno v:
EMC - Traité de médecine AKOS. 1:1-5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d9909fbb9f4db8160273f3ea34c5bda
https://doi.org/10.1016/s1634-6939(06)75588-0
https://doi.org/10.1016/s1634-6939(06)75588-0
Autor:
N. Joye, Tania Attié-Bitach, Jelena Martinovic, Damien Sanlaville, Chantal Esculpavit, Catherine Ozilou, Marie-Cécile Aubry, Heather C. Etchevers, Arnold Munnich, Jeanne Amiel, Corinne Cruaud, Catherine Fredouille, Sophie Audollent, Michel Vekemans, Anna Pelet, Nicole Morichon-Delvallez, Yves Dumez, Stanislas Lyonnet, Mathieu Clément-Ziza, Anne-Lise Delezoide, Sophie Chemouny, Marie Gonzales, Férechté Encha-Razavi, Jean Weissenbach, Géraldine Goudefroye
Publikováno v:
Journal of Medical Genetics. 43:211-317
Background: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dd0b8b39f48f3375635c5eb21501be8
https://doi.org/10.1136/jmg.2005.036160
https://doi.org/10.1136/jmg.2005.036160
Autor:
Nicole Morichon-Delvallez, Michel Vekemans, Tania Attié-Bitach, Jelena Martinovic, Férechté Encha-Razavi, Arnold Munnich, Jeanne Amiel, Yolanda Espinosa-Parrilla, Stanislas Lyonnet
Publikováno v:
Prenatal Diagnosis. 24:298-301
Objective Agenesis of the corpus callosum (ACC) is the most common malformation of the central nervous system and may be associated with mental retardation. ACC is found in 40% of the cases of Mowat–Wilson syndrome (MWS), a polytopic embryonic defe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef51c0f7eff820f395eaed1d7244376
https://doi.org/10.1002/pd.865
https://doi.org/10.1002/pd.865
Autor:
Michel Vekemans, Yves Dumez, Nicole Morichon-Delvallez, Marie-Cécile Aubry, Damien Sanlaville, Arnold Munnich, Jeanne Amiel, M C Nolen, Stanislas Lyonnet, M. P. Pinson
Publikováno v:
Journal of Medical Genetics. 37:525-528
To our knowledge, 22 cases of chromosome 14 maternal uniparental disomy (UPD(14)mat) have been reported so far. The majority of cases were ascertained because of an abnormal phenotype associated with a Robertsonian translocation involving chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7def3ea3be9a3863055acc9a3827bf0
https://doi.org/10.1136/jmg.37.7.525
https://doi.org/10.1136/jmg.37.7.525
Autor:
Valérie Raclin, J. P. Aubry, Michel Vekemans, Laurence Faivre, Arnold Munnich, Jelena Martinovic, Nicole Morichon-Delvallez, M. P. Pinson, Yves Dumez, Patrick Edery, Géraldine Viot
Publikováno v:
Prenatal Diagnosis. 19:49-53
The prenatal diagnosis of a 1p36 deletion is reported. The pregnancy was ascertained at 24 weeks of gestation because of the discovery of multiple malformations at ultrasound including hypotelorism, moderate cerebral ventricular dilatation and Ebstei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49ba6498a0a87b8518fe803cfb029069
https://doi.org/10.1002/(sici)1097-0223(199901)19:1<49::aid-pd450>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199901)19:1<49::aid-pd450>3.0.co
Autor:
Bernard Aral, Michel Vekemans, Férechté Encha-Razavi, Valérie Malan, Isabelle Texier, Jean-Paul Bonnefont, Nicole Morichon-Delvallez, Jelena Martinovic, Geneviève Quenum-Miraillet
Publikováno v:
Prenatal Diagnosis. 28:69-71
Genevieve Quenum-Miraillet1, Valerie Malan1, Jelena Martinovic1, Ferechte Encha-Razavi1, Bernard Aral2, Isabelle Texier1, Jean-Paul Bonnefont2, M. Vekemans1 and Nicole Morichon-Delvallez1* 1Service de Cytogenetique et d’Embryologie, Hopital Necker-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b09a558646e80bf2d5ac34e3c007f7eb
https://doi.org/10.1002/pd.1911
https://doi.org/10.1002/pd.1911