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A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome

Acta dermato-venereologica, 2018-05, Vol.98 (5), p.534-535

2018

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Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism

JEADV clinical practice, 2022-12, Vol.1 (4), p.416-419

2022

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Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer

Oncogene, 2005-10, Vol.24 (44), p.6667-6675

2005

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Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3122-3128

2021

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Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos

Human molecular genetics, 2021-12, Vol.31 (1), p.10-17

2021

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Unusual phenotypes in patients with a pathogenic germline variant in DICER1

Familial cancer, 2023-10, Vol.22 (4), p.475-480

2023

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Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome

Pigment cell and melanoma research, 2019-05, Vol.32 (3), p.470-473

2019

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High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome

American journal of medical genetics. Part A, 2013-04, Vol.161A (4), p.889-891

2013

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Clinical and Genetic Evaluation of Patients with KATP Channel Mutations from the German Registry for Congenital Hyperinsulinism

Hormone research in paediatrics, 2014, Vol.81 (3), p.156-168

2014

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Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS‐mutant neurocutaneous melanosis

Neuropathology and applied neurobiology, 2022-10, Vol.48 (6), p.e12830-n/a

2022

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Craniofrontonasal Syndrome: Atrial Septal Defect with a Novel EFNB1 Gene Mutation

The Cleft palate-craniofacial journal, 2015-03, Vol.52 (2), p.234-236

2015

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Molecular interactions of B-CAM (basal-cell adhesion molecule) and laminin in epithelial skin cancer

Archives of Dermatological Research, 2004-06, Vol.296 (2), p.59-66

2004

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Twenty-six novelEFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

Human mutation, 2005-08, Vol.26 (2), p.113-118

2005

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A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3213-3214

2014

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Detection of a multi-lineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome

Pigment cell and melanoma research, 2018-12

2018

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Potocki-shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.346-352

2014

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Potocki–shaffer deletion encompassing ALX 4 in a patient with frontonasal dysplasia phenotype

American journal of medical genetics. Part A, 2014-02, Vol.164 (2), p.346-352

2014

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1297 INTEGRATOR COMPLEX SUBUNIT 6/DELETED IN CANCER 1 INHIBITS GROWTH OF HUMAN ANDROGEN-INDEPENDENT PROSTATE CANCER CELLS BY ALTERING THE CELL CYCLE PROFILE AND WNT SIGNALING

The Journal of urology, 2010, Vol.183 (4), p.e502-e502

2010

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Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

Human mutation, 2005-08, Vol.26 (2), p.113-118

2005

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The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy

American journal of medical genetics. Part A, 2007-12, Vol.143A (23), p.2810-2814

2007

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High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11)

Genes chromosomes & cancer, 2006-10, Vol.45 (10), p.945-949

2006

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Loss of Heterozygosity on Chromosome 5p13-12 Predicts Adverse Prognosis in Advanced Bladder Cancer Independent of Tumor Stage and Grade

The Journal of urology, 2002-12, Vol.168 (6), p.2655-2658

2002

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Ectopic expression of DICE1 suppresses tumor cell growth

Oncology reports, 2004-08, Vol.12 (2), p.207

2004

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Loss of Heterozygosity on Chromosome 5p13-12 Predicts Adverse Prognosis in Advanced Bladder Cancer Independent of Tumor Stage and Grade

The Journal of urology, 2002-12, p.2655-2658

2002

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A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome

Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism

Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer

Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome

High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome

Clinical and Genetic Evaluation of Patients with KATP Channel Mutations from the German Registry for Congenital Hyperinsulinism

Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS‐mutant neurocutaneous melanosis

Craniofrontonasal Syndrome: Atrial Septal Defect with a Novel EFNB1 Gene Mutation

Molecular interactions of B-CAM (basal-cell adhesion molecule) and laminin in epithelial skin cancer

Twenty-six novelEFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome

Detection of a multi-lineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome

Potocki-shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype

Potocki–shaffer deletion encompassing ALX 4 in a patient with frontonasal dysplasia phenotype

1297 INTEGRATOR COMPLEX SUBUNIT 6/DELETED IN CANCER 1 INHIBITS GROWTH OF HUMAN ANDROGEN-INDEPENDENT PROSTATE CANCER CELLS BY ALTERING THE CELL CYCLE PROFILE AND WNT SIGNALING

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy

High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11)

Loss of Heterozygosity on Chromosome 5p13-12 Predicts Adverse Prognosis in Advanced Bladder Cancer Independent of Tumor Stage and Grade

Ectopic expression of DICE1 suppresses tumor cell growth

Loss of Heterozygosity on Chromosome 5p13-12 Predicts Adverse Prognosis in Advanced Bladder Cancer Independent of Tumor Stage and Grade

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