Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Genotype–phenotype correlation in four 15q24 deleted patients identified by array-CGH

(2009) Joris Andrieux et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia

(2009) P. Callier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH

(2009) Alice Masurel-Paulet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A de novo direct duplication of 16q22.1 → q23.1 in a boy with midface hypoplasia and mental retardation

(2009) Tomoharu Tokutomi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

(2009) Hilde Van Esch et al.   European Journal of Medical Genetics

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

(2009) Ayman W. El-Hattab et al.   HUMAN GENETICS

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

(2009) S C Sreenath Nagamani et al.   JOURNAL OF MEDICAL GENETICS

Apparent Homozygosity of a Novel Frame Shift Mutation in the CFTR Gene Because of a Large Deletion

(2009) Feras M. Hantash et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Increased LIS1 expression affects human and mouse brain development

(2009) Weimin Bi et al.   NATURE GENETICS

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

(2009) Marwan Shinawi et al.   NATURE GENETICS

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

New insights into the role of PML in tumour suppression

(2008) P Salomoni et al.   CELL RESEARCH

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

(2008) Ann-Britt Kiholm Lund et al.   European Journal of Medical Genetics

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

Novel microdeletion syndromes detected by chromosome microarrays

(2008) Anne M. Slavotinek   HUMAN GENETICS

Kalirin-7 Is an Essential Component of both Shaft and Spine Excitatory Synapses in Hippocampal Interneurons

(2008) X.-M. Ma et al.   JOURNAL OF NEUROSCIENCE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) Provides Insight into the Possible Mechanism of Rearrangement

(2008) Oleg A Shchelochkov et al.   Molecular Cytogenetics