Related references
Note: Only part of the references are listed.Dynamic reorganization of open chromatin underlies diverse transcriptomes during spermatogenesis
So Maezawa et al.
NUCLEIC ACIDS RESEARCH (2018)
Sexual dimorphism in the width of the mouse synaptonemal complex
Ana Agostinho et al.
JOURNAL OF CELL SCIENCE (2018)
Emerging genotype-phenotype relationships in patients with large NF1 deletions
Hildegard Kehrer-Sawatzki et al.
HUMAN GENETICS (2017)
Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification
Morten Hillmer et al.
HUMAN MUTATION (2017)
A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies
Ruiyu Ma et al.
SCIENTIFIC REPORTS (2017)
Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions
Morten Hillmer et al.
HUMAN MOLECULAR GENETICS (2016)
Timing, rates and spectra of human germline mutation
Raheleh Rahbari et al.
NATURE GENETICS (2016)
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV
Michael H. Duyzend et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis
Xingyi Guo et al.
HUMAN MOLECULAR GENETICS (2016)
Mechanisms underlying structural variant formation in genomic disorders
Claudia M. B. Carvalho et al.
NATURE REVIEWS GENETICS (2016)
SPERMATOGENESIS: THE COMMITMENT TO MEIOSIS
Michael D. Griswold
PHYSIOLOGICAL REVIEWS (2016)
Poised chromatin and bivalent domains facilitate the mitosis-to-meiosis transition in the male germline
Ho-Su Sin et al.
BMC BIOLOGY (2015)
Human Structural Variation: Mechanisms of Chromosome Rearrangements
Brooke Weckselblatt et al.
TRENDS IN GENETICS (2015)
Recombination, Pairing, and Synapsis of Homologs during Meiosis
Denise Zickler et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2015)
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population
Jia Zhang et al.
SCIENTIFIC REPORTS (2015)
The Genetics of Microdeletion and Microduplication Syndromes: An Update
Corey T. Watson et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 15 (2014)
Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination
Kathrin Bengesser et al.
HUMAN MUTATION (2014)
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints
Julia Vogt et al.
GENOME BIOLOGY (2014)
Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes
Maria Delio et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome
Zhe Sun et al.
HUMAN MOLECULAR GENETICS (2013)
De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance
Charlene Sibbons et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Characterization of the Nonallelic Homologous Recombination Hotspot PRS3 Associated with Type-3 NF1 Deletions
Antje M. Zickler et al.
HUMAN MUTATION (2012)
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder
Julia Vogt et al.
HUMAN MUTATION (2012)
Rate of de novo mutations and the importance of father's age to disease risk
Augustine Kong et al.
NATURE (2012)
Genome analyses substantiate male mutation bias in many species
Melissa A. Wilson Sayres et al.
BIOESSAYS (2011)
Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
Roberta Lelis Dutra et al.
CLINICS (2011)
Mosaic Type-1 NF1 Microdeletions as a Cause of Both Generalized and Segmental Neurofibromatosis Type-1 (NF1)
Ludwine Messiaen et al.
HUMAN MUTATION (2011)
De novo copy number variants associated with intellectual disability have a paternal origin and age bias
Jayne Y. Hehir-Kwa et al.
JOURNAL OF MEDICAL GENETICS (2011)
Inversion of the Williams Syndrome Region Is a Common Polymorphism Found More Frequently in Parents of Children With Williams Syndrome
Holly H. Hobart et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2010)
Epigenetic Transitions in Germ Cell Development and Meiosis
Satya K. Kota et al.
DEVELOPMENTAL CELL (2010)
De novo rates and selection of large copy number variation
Andy Itsara et al.
GENOME RESEARCH (2010)
Intrachromosomal Mitotic Nonallelic Homologous Recombination Is the Major Molecular Mechanism Underlying Type-2 NF1 Deletions
Angelika C. Roehl et al.
HUMAN MUTATION (2010)
A Novel Third Type of Recurrent NF1 Microdeletion Mediated by Nonallelic Homologous Recombination between LRRC37B-Containing Low-Copy Repeats in 17q11.2
Kathrin Bengesser et al.
HUMAN MUTATION (2010)
NF1 Microdeletions in Neurofibromatosis Type 1: From Genotype to Phenotype
Eric Pasmant et al.
HUMAN MUTATION (2010)
Fine-scale recombination rate differences between sexes, populations and individuals
Augustine Kong et al.
NATURE (2010)
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
D. A. Koolen et al.
JOURNAL OF MEDICAL GENETICS (2008)
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination
Katharina Steinmann et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion
Thomas De Raedt et al.
NATURE GENETICS (2006)
A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination
Sarah J. Lindsay et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11
N. Simon Thomas et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2006)
Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man
NS Thomas et al.
HUMAN GENETICS (2006)
Traffic of genetic information between segmental duplications flanking the typical 22q-11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome
A Pavlicek et al.
GENOME RESEARCH (2005)
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-mb microdeletion
R Visser et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion
SC Saitta et al.
HUMAN MOLECULAR GENETICS (2004)
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
H Kehrer-Sawatzki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion
SH Forbes et al.
GENES CHROMOSOMES & CANCER (2004)
Screening 500 unselected neuroflibromatosis 1 patients for deletions of the NF1 gene
L Kluwe et al.
HUMAN MUTATION (2004)
Mutational mechanisms of Williams-Beuren syndrome deletions
M Bayés et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Abundant gene conversion between arms of palindromes in human and ape Y chromosomes
S Rozen et al.
NATURE (2003)
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome
N Miyake et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
DE Jenne et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Recombination hotspot in NF1 microdeletion patients
C López-Correa et al.
HUMAN MOLECULAR GENETICS (2001)
Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2
D Trost et al.
JOURNAL OF MEDICAL GENETICS (2000)
Unequal meiotic crossover:: A frequent cause of NF1 microdeletions
CL Correa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Buccal swabs but not mouthwash samples can be used to obtain pretransplant DNA fingerprints from recipients of allogeneic bone marrow transplants
C Thiede et al.
BONE MARROW TRANSPLANTATION (2000)
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
MO Dorschner et al.
HUMAN MOLECULAR GENETICS (2000)
Share Paper
