UB Paderborn / Katalog / Suche / in CDI

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

European journal of human genetics : EJHG, 2020-11, Vol.28 (11), p.1548-1554

2020

Link zum Volltext

Verfügbarkeit prüfen

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.271-281

2015

Link zum Volltext

Verfügbarkeit prüfen

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1309-1318

2017

Link zum Volltext

Verfügbarkeit prüfen

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

American journal of medical genetics. Part A, 2006-01, Vol.140A (1), p.1-7

2006

Link zum Volltext

Verfügbarkeit prüfen

Somatic mosaicism for an HRAS mutation causes Costello syndrome

American journal of medical genetics. Part A, 2006-10, Vol.140A (20), p.2163-2169

2006

Link zum Volltext

Verfügbarkeit prüfen

An integrated approach for analyzing clinical genomic variant data from next-generation sequencing

Journal of biomolecular techniques, 2015-04, Vol.26 (1), p.19-28

2015

Link zum Volltext

Verfügbarkeit prüfen

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

American journal of medical genetics. Part A, 2007-07, Vol.143A (13), p.1472-1480

2007

Link zum Volltext

Verfügbarkeit prüfen

Plasma Membrane Ca2+-ATPase 4 in Murine Epididymis: Secretion of Splice Variants in the Luminal Fluid and a Role in Sperm Maturation1

Biology of reproduction, 2013-07, Vol.89 (1), p.6-6

2013

Link zum Volltext

Verfügbarkeit prüfen

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2240-2249

2014

Link zum Volltext

Verfügbarkeit prüfen

Longitudinal assessment of cognitive characteristics in Costello syndrome

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.3185-3193

2007

Link zum Volltext

Verfügbarkeit prüfen

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

Neurogenetics, 2021-03, Vol.22 (1), p.53-64

2021

Link zum Volltext

Verfügbarkeit prüfen

Medically actionable comorbidities in adults with Costello syndrome

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.130-136

2020

Link zum Volltext

Verfügbarkeit prüfen

Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3197-3206

2016

Link zum Volltext

Verfügbarkeit prüfen

Plasma Membrane Ca2+-ATPase 4 in Murine Epididymis: Secretion of Splice Variants in the Luminal Fluid and a Role in Sperm Maturation

Biology of reproduction, 2013-07, Vol.89 (1), p.6-6

2013

Link zum Volltext

Verfügbarkeit prüfen

Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density

European journal of human genetics : EJHG, 2005-06, Vol.13 (6), p.781-788

2005

Link zum Volltext

Verfügbarkeit prüfen

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2420-2430

2013

Link zum Volltext

Verfügbarkeit prüfen

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR

Neuromuscular disorders : NMD, 2017-05, Vol.27 (5), p.439-446

2017

Link zum Volltext

Verfügbarkeit prüfen

Age‐related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1294-1300

2017

Link zum Volltext

Verfügbarkeit prüfen

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2085-2097

2015

Link zum Volltext

Verfügbarkeit prüfen

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

Molecular genetics & genomic medicine, 2015-07, Vol.3 (4), p.248-257

2015

Link zum Volltext

Verfügbarkeit prüfen

Assessing genotype-phenotype correlation in Costello syndrome using a severity score

Genetics in medicine, 2013-07, Vol.15 (7), p.554-557

2013

Link zum Volltext

Verfügbarkeit prüfen

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2106-2118

2012

Link zum Volltext

Verfügbarkeit prüfen

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.315-321

2009

Link zum Volltext

Verfügbarkeit prüfen

Paternal bias in parental origin of HRAS mutations in Costello syndrome

Human mutation, 2006-08, Vol.27 (8), p.736-741

2006

Link zum Volltext

Verfügbarkeit prüfen

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

American journal of medical genetics. Part A, 2011-04, Vol.155A (4), p.706-716

2011

Link zum Volltext

Verfügbarkeit prüfen

Menü

Weitere Dienste

Einstellungen

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

Somatic mosaicism for an HRAS mutation causes Costello syndrome

An integrated approach for analyzing clinical genomic variant data from next-generation sequencing

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

Plasma Membrane Ca2+-ATPase 4 in Murine Epididymis: Secretion of Splice Variants in the Luminal Fluid and a Role in Sperm Maturation1

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

Longitudinal assessment of cognitive characteristics in Costello syndrome

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

Medically actionable comorbidities in adults with Costello syndrome

Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma

Plasma Membrane Ca2+-ATPase 4 in Murine Epididymis: Secretion of Splice Variants in the Luminal Fluid and a Role in Sperm Maturation

Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR

Age‐related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

Assessing genotype-phenotype correlation in Costello syndrome using a severity score

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

Paternal bias in parental origin of HRAS mutations in Costello syndrome

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

Suchergebnisse filtern