Výsledky vyhledávání

Syndrome de microdélétion 22q11.2 : analyse du parcours patient avant le diagnostic génétique

Autor: G. Bosser, Bruno Leheup, M. Valduga, L. Lambert, T. Ingrao, E. Albuisson

Publikováno v: Archives de Pédiatrie. 24:1067-1075

Resume Introduction Le syndrome microdeletionnel 22q11.2 (SMD22q11) est le microremaniement chromosomique le plus frequent : 15 000 personnes seraient atteintes en France, plus de la moitie l’ignorant. L’objectif de cette etude etait d’analyser

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::390f4355c3081a5e23d7e81c0b98fd3f
https://doi.org/10.1016/j.arcped.2017.08.017

Zobrazit plný text záznamu

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion

Autor: Francine Arbez-Gindre, Claire Toubin, M. Valduga, Didier Riethmuller, Christelle Cabrol, Nicolas Mottet, Ken McElreavey, Lionel Van Maldergem, Juliette Piard, Jean-Patrick Metz

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2019, 62, pp.103539-. ⟨10.1016/j.ejmg.2018.09.006⟩
European Journal of Medical Genetics, 2019, 62 (9), pp.103539. ⟨10.1016/j.ejmg.2018.09.006⟩

International audience; A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genital

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80331027e48914ed56dda2750b8f71ba
https://hal.archives-ouvertes.fr/hal-03488020

Zobrazit plný text záznamu

TCF12 microdeletion in a 72‐year‐old woman with intellectual disability

Autor: Alain Czorny, M. Valduga, Virginie Roze, Aimee L. Fenwick, Andrew O.M. Wilkie, Juliette Piard, Lionel Van Maldergem, Marion Lenoir

Publikováno v: American Journal of Medical Genetics. Part a

Heterozygous mutations in TCF12 were recently identified as an important cause of craniosynostosis. In the original series, 14% of patients with a mutation in TCF12 had significant developmental delay or learning disability. We report on the first ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82477dffff7c0b274e769b167ccdb328
https://doi.org/10.1002/ajmg.a.37083

Zobrazit plný text záznamu

[22q11.2 microdeletion syndrome: Analysis of the care pathway before the genetic diagnosis]

Autor: T, Ingrao, L, Lambert, M, Valduga, G, Bosser, E, Albuisson, B, Leheup

Publikováno v: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 24(11)

22q11.2 deletion syndrome (22q11.2DS) is a very broad phenotypic spectrum disorder. It can affect many organs or systems. 22q11.2DS is the most common microdeletion syndrome in humans, with a prevalence ranging from one in every 2000 to one in 4000 n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8e2f305bac1c6c19ee92d7cf10760baf
https://pubmed.ncbi.nlm.nih.gov/28967605

Zobrazit plný text záznamu

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication

Autor: Claire Beneteau, Marie-José Grégoire, Christophe Philippe, Marie Marvier, Juliette Piard, M. Béri, Philippe Jonveaux, Virginie Roth, B. Leheup, Céline Bonnet, M. Valduga

Publikováno v: American Journal of Medical Genetics Part A. :1933-1941

The clinical significance of an interstitial duplication of chromosome 15q11q13 is still not well documented. This abnormality has been associated with autistic spectrum disorders (ASD) and varying degrees of mental retardation. The clinical variabil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ac59465092aef2d71fe4d70fa819293
https://doi.org/10.1002/ajmg.a.33521

Zobrazit plný text záznamu

A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations

Autor: A. Miton, M. Valduga, M. Béri, Christophe Nemos, B. Foliguet, Philippe Jonveaux, P. Bach Segura, O. Thiebaugeorges, Christophe Philippe, Céline Bonnet

Publikováno v: Prenatal Diagnosis. 30:333-341

Objective To retrospectively define the frequency and the nature of submicroscopic chromosomal imbalances among fetuses with multiple congenital anomalies (MCA). Methods We used oligonucleotide arrays to perform comparative genomic hybridization afte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3cb42f4a7b66887dab3249e8698c771b
https://doi.org/10.1002/pd.2460

Zobrazit plný text záznamu

Prenatal diagnosis of mosaicism for 11q terminal deletion

Autor: A. Miton, Philippe Jonveaux, T. Lecompte, B. Foliguet, S. Romana, Christophe Philippe, M. Valduga, P. Droulle, V. Latger Cannard

Publikováno v: European Journal of Medical Genetics. 50:475-481

The phenotype of 11q terminal deletion also known as Jacobsen syndrome is a clinically well known entity whose diagnosis in infancy and childhood is based on clinical examination, hematological and cytogenetic findings. Hematological features in Jaco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e26e1b468d0cfcc975046b83f21b64f
https://doi.org/10.1016/j.ejmg.2007.06.002

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání