Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11

Cell Biology of Mitotic Recombination

(2015) Michael Lisby et al.   Cold Spring Harbor Perspectives in Biology

Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome

(2014) Y. Ohtsuka et al.   CLINICAL GENETICS

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

(2014) Thomas Eggermann et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Sources of DNA Double-Strand Breaks and Models of Recombinational DNA Repair

(2014) A. Mehta et al.   Cold Spring Harbor Perspectives in Biology

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

(2013) Jennifer M. Kalish et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular Findings in Beckwith-Wiedemann Syndrome

(2013) SANAA CHOUFANI et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Genome-wide androgenetic mosaicism

(2013) J.P. Johnson et al.   CLINICAL GENETICS

A novelde novopoint mutation of the OCT-binding site in theIGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient

(2013) K. Higashimoto et al.   CLINICAL GENETICS

Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders

(2013) Hidenobu Soejima et al.   JOURNAL OF HUMAN GENETICS

Meiotic recombination in mammals: localization and regulation

(2013) Frédéric Baudat et al.   NATURE REVIEWS GENETICS

Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues

(2012) Michal Inbar-Feigenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour

(2012) Magdalena Gogiel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?

(2012) Arkarachai Fungtammasan et al.   GENOME RESEARCH

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

(2011) Pablo Lapunzina et al.   BIOLOGY OF THE CELL

Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

(2011) Valeria Romanelli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Uniparental disomy and human disease: An overview

(2010) Kazuki Yamazawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

(2010) Margaret Elliott et al.   CLINICAL GENETICS

Androgenetic/biparental mosaicism in a girl with Beckwith–Wiedemann syndrome-like and upd(14)pat-like phenotypes

(2010) Kazuki Yamazawa et al.   JOURNAL OF HUMAN GENETICS

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

(2010) V. Romanelli et al.   JOURNAL OF MEDICAL GENETICS

PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice

(2010) F. Baudat et al.   SCIENCE

Beckwith–Wiedemann syndrome

(2009) Rosanna Weksberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A common sequence motif associated with recombination hot spots and genome instability in humans

(2008) Simon Myers et al.   NATURE GENETICS

Androgenetic/Biparental Mosaicism in an Infant with Hepatic Mesenchymal Hamartoma and Placental Mesenchymal Dysplasia

(2008) Robyn C. Reed et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY