Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome-Reference-Cited by-同舟云学术

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

Published:2007-11 Issue:11 Volume:28 Page:1098-1107
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Saugier-Veber Pascale,Bonnet Céline,Afenjar Alexandra,Drouin-Garraud Valérie,Coubes Christine,Fehrenbach Séverine,Holder-Espinasse Muriel,Roume Joëlle,Malan Valérie,Portnoi Marie-France,Jeanne Nicolas,Baumann Clarisse,Héron Delphine,David Albert,Gérard Marion,Bonneau Dominique,Lacombe Didier,Cormier-Daire Valérie,Billette de Villemeur Thierry,Frébourg Thierry,Bürglen Lydie

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference36 articles.

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3. Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments;Casilli;Hum Mutat,2002

4. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth;Cecconi;Am J Med Genet A,2005

5. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments;Charbonnier;Cancer Res,2000

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3. Chromatin regulation of transcriptional enhancers and cell fate by the Sotos syndrome gene NSD1;Molecular Cell;2023-07

4. An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant;American Journal of Medical Genetics Part A;2023-03-15

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