Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome (original) (raw)
dHPLC Screening of the NSD1 gene Identifies Nine Novel Mutations - Summary of the first 100 Sotos Syndrome Mutations
Linea Melchior
Annals of Human Genetics, 2005
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Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
Luitgard Graul-neumann, Sukru Palanduz
European Journal of Human Genetics, 2003
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Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations
Karen Temple
The American Journal of Human Genetics, 2005
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A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome
Gianluigi Laccetta
Frontiers in Pediatrics, 2017
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Identification of eight novel NSD1 mutations in Sotos syndrome
Salmo Raskin
Journal of medical …, 2003
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NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes
Karen Temple
The American Journal of Human Genetics, 2003
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Sotos Syndrome Type 1 and Type 2: Case Series of 4 Pediatric Patients with Variants in NSD1 and NFIX Genes
Paskal Cullufi
Journal of Advances in Medicine and Medical Research
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Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions
Yoshio Makita
Journal of Medical Genetics, 2003
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The first Japanese familial sotos syndrome with a novel mutation of the NSD1 gene
Masafumi Matsuo
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Genome-Wide SNP Array Analysis in Patients with Features of Sotos Syndrome
Marcel Karperien
Hormone Research in Paediatrics, 2010
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De novo NSD1 mutation leading to Sotos syndrome – First case report from Oman
Aala Zadjali
Journal of Diabetes and Endocrine Practice
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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1 : Is it really a reversed sotos syndrome?
Ute Moog
American Journal of Medical Genetics Part A, 2013
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A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype
Larizza Larizza
American Journal of Medical Genetics Part A, 2013
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Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome
daniel carvalho
Molecular Syndromology, 2015
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Sotos syndrome - Case report of a rare genetic disorder
ananya madiyal
Applied Medical Research, 2016
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Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly
Jerome Gorski
Molecular Syndromology, 2013
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A Case of Sotos Syndrome Caused by a Novel Variant in the NSD1 Gene: A Proposed Rationale to Treat Accompanying Precocious Puberty
Gulsen Akay
Acta Endocrinologica (Bucharest)
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Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
Christopher Gillberg, Maria Råstam
BMC Medical Genetics, 2007
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Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome
Alberto Spalice
Journal of Genetics, 2011
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Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome
Takashi Shiihara
The American Journal of Human Genetics, 2003
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Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome
Marcel Karperien
Hormone Research in Paediatrics, 2004
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Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome
Sylvie Rossignol
2004
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Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema
Oliver Bartsch
European Journal of Medical Genetics, 2009
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A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings
Koray boduroğlu
The Turkish journal of pediatrics
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Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes
Carmen Orellana
Pediatric Research, 2015
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Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
Kazuhiro Ogata
Journal of Human Genetics, 2012
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Spectrum of NSD1 mutations in Sotos and Weaver syndromes
Patrick Edery
Journal of Medical Genetics, 2003
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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature
Martine van Belzen
European journal of human genetics : EJHG, 2014
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