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Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Human mutation, 2012-02, Vol.33 (2), p.343-350

2012

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Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

The Journal of experimental medicine, 2019-02, Vol.216 (2), p.407-418

2019

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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

Human mutation, 2012-10, Vol.33 (10), p.1444-1449

2012

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A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.100-107

2023

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Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study

Clinical genetics, 2022-03, Vol.101 (3), p.296-306

2022

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Phenotypic and molecular characterization of five patients with PIK3CA‐related overgrowth spectrum (PROS)

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1792-1800

2022

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KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib

Clinical genetics, 2021-10, Vol.100 (4), p.484-485

2021

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An asymptomatic stain on the forehead

Journal der Deutschen Dermatologischen Gesellschaft, 2020-12, Vol.18 (12), p.1511-1514

2020

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Constitutional mosaicism in RASA1‐related capillary malformation‐arteriovenous malformation

Clinical genetics, 2019-04, Vol.95 (4), p.516-519

2019

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Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

American journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1018-1025

2015

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New microdeletion and microduplication syndromes: A comprehensive review

Genetics and molecular biology, 2014-01, Vol.37 (1 Suppl), p.210-219

2014

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Clinical overlap between CLAPO syndrome and macrocephaly‐capillary malformation syndrome

Journal der Deutschen Dermatologischen Gesellschaft, 2020-05, Vol.18 (5), p.479-482

2020

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Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1143-1150

2014

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Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

American journal of medical genetics. Part A, 2010-12, Vol.152A (12), p.3101-3106

2010

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Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

PloS one, 2015-08, Vol.10 (8), p.e0136812-e0136812

2015

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Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1950-1960

2013

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CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1390-1397

2010

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A six-attribute classification of genetic mosaicism

Genetics in medicine, 2020-11, Vol.22 (11), p.1743-1757

2020

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Ein asymptomatischer Fleck auf der Stirn

Journal der Deutschen Dermatologischen Gesellschaft, 2020-12, Vol.18 (12), p.1511-1514

2020

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Simpson-Golabi-Behmel syndrome types I and II

Orphanet journal of rare diseases, 2014-09, Vol.9 (1), p.138-138, Article 138

2014

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Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies

Genetics and molecular biology, 2014-01, Vol.37 (1 Suppl), p.241-249

2014

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Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies

Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study

A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement

Phenotypic and molecular characterization of five patients with PIK3CA‐related overgrowth spectrum (PROS)

KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib

An asymptomatic stain on the forehead

Constitutional mosaicism in RASA1‐related capillary malformation‐arteriovenous malformation

A New Overgrowth Syndrome is due to Mutations in RNF125

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

New microdeletion and microduplication syndromes: A comprehensive review

Clinical overlap between CLAPO syndrome and macrocephaly‐capillary malformation syndrome

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

A six-attribute classification of genetic mosaicism

Ein asymptomatischer Fleck auf der Stirn

Simpson-Golabi-Behmel syndrome types I and II

Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

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