Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion-Reference-Cited by-同舟云学术

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Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

Published:2014-05-12 Issue:8 Volume:164 Page:2084-2090
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Novara Francesca¹,Stanzial Franco²,Rossi Elena¹,Benedicenti Francesco²,Inzana Francesca²,Di Gregorio Eleonora³⁴,Brusco Alfredo³⁴^ORCID,Graakjaer Jesper⁵,Fagerberg Christina⁶,Belligni Elga⁷,Silengo Margherita⁷,Zuffardi Orsetta¹,Ciccone Roberto¹⁸

Affiliation:

1. Department of Molecular Medicine; University of Pavia; Pavia Italy

2. Department of Pediatrics; Genetic Counselling Service; Regional Hospital of Bolzano; Bolzano Italy

3. Department of Medical Sciences; University of Torino; Torino Italy

4. S.C.D.U. Medical Genetics; Città della Salute e della Scienza; Torino Italy

5. Clinical Genetics Department; Vejle Hospital; Vejle Denmark

6. Clinical Genetics Department; Odense University Hospital; Odense Denmark

7. Department of Pediatrics; University of Turin; Turin Italy

8. Center for Genetic and Therapeutic Approaches; C. Mondino National Neurological Institute; Pavia Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Increased LIS1 expression affects human and mouse brain development;Bi;Nat Genet,2009

2. The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders;Bolton;Am J Med Genet,2001

3. Metacarpophalangeal pattern profile analysis in Sotos syndrome: A follow-up report on 34 subjects;Butler;Am J Med Genet,1988

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

5. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q;Chen;Am J Med Genet Part A,2006

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1. A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome;American Journal of Medical Genetics Part A;2024-02-06

2. Optical genome mapping for prenatal diagnosis: A prospective study;Clinica Chimica Acta;2023-11

3. Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review;Current Pediatric Reviews;2023-05

4. Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants;American Journal of Medical Genetics Part A;2023-04-17

5. 5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression;American Journal of Medical Genetics Part A;2022-12-02

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