4.6 Article

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions

Lisa Neuhaeusler et al.

HUMAN GENETICS (2018)

Review Genetics & Heredity

Emerging genotype-phenotype relationships in patients with large NF1 deletions

Hildegard Kehrer-Sawatzki et al.

HUMAN GENETICS (2017)

Review Biochemistry & Molecular Biology

Transcription-Coupled DNA Double-Strand Break Repair: Active Genes Need Special Care

Aline Marnef et al.

JOURNAL OF MOLECULAR BIOLOGY (2017)

Article Genetics & Heredity

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders

Beatrice Oneda et al.

MOLECULAR SYNDROMOLOGY (2017)

Article Biochemistry & Molecular Biology

Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions

Morten Hillmer et al.

HUMAN MOLECULAR GENETICS (2016)

Review Biochemistry & Molecular Biology

Unrevealed mosaicism in the next-generation sequencing era

Marzena Gajecka

MOLECULAR GENETICS AND GENOMICS (2016)

Article Genetics & Heredity

Detecting somatic mosaicism: considerations and clinical implications

A. S. A. Cohen et al.

CLINICAL GENETICS (2015)

Review Biochemistry & Molecular Biology

Multiplex Ligation-dependent Probe Amplification (MLPA) in Tumor Diagnostics and Prognostics

Cornelia Homig-Holzel et al.

DIAGNOSTIC MOLECULAR PATHOLOGY (2012)

Article Biochemistry & Molecular Biology

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

Monique M. van Veghel-Plandsoen et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

Extended Runs of Homozygosity at 17q11.2: An Association with Type-2 NF1 Deletions?

Angelika C. Roehl et al.

HUMAN MUTATION (2010)

Article Genetics & Heredity

NF1 Microdeletions in Neurofibromatosis Type 1: From Genotype to Phenotype

Eric Pasmant et al.

HUMAN MUTATION (2010)

Review Genetics & Heredity

Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

H. Kehrer-Sawatzki et al.

JOURNAL OF MEDICAL GENETICS (2008)

Article Biochemistry & Molecular Biology

The polycomb group protein Suz12 is required for embryonic stem cell differentiation

Diego Pasini et al.

MOLECULAR AND CELLULAR BIOLOGY (2007)

Article Biochemistry & Molecular Biology

Recombination hotspot in NF1 microdeletion patients

C López-Correa et al.

HUMAN MOLECULAR GENETICS (2001)

Article Genetics & Heredity

Unequal meiotic crossover:: A frequent cause of NF1 microdeletions

CL Correa et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)

Article Biochemistry & Molecular Biology

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

MO Dorschner et al.

HUMAN MOLECULAR GENETICS (2000)