Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function

Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development

(2016) Martin M. Johansson et al.   Biology of Sex Differences

Delineating the association between isodicentric chromosome Y and infertility: a retrospective study

(2014) Hamid Kalantari et al.   FERTILITY AND STERILITY

Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

(2013) Nuala H Simpson et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Y-chromosome microdeletions are not associated with SHOX haploinsufficiency

(2013) C. Chianese et al.   HUMAN REPRODUCTION

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

(2013) María C. Lardone et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013

(2013) C. Krausz et al.   Andrology

Exceptional lexical skills but executive language deficits in school starters and young adults with Turners syndrome: Implications for X chromosome effects on brain function

(2012) Christine M. Temple et al.   BRAIN AND LANGUAGE

Molecular and Clinical Characteristics of 26 Cases with Structural Y Chromosome Aberrations

(2012) J.-W. Kim et al.   CYTOGENETIC AND GENOME RESEARCH

Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?

(2012) Sandra E. Kleiman et al.   FERTILITY AND STERILITY

Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder

(2012) Bruno Etain et al.   HUMAN MOLECULAR GENETICS

Isodicentric Yq mosaicism presenting as infertility and maturation arrest without altered SRY and AZF regions

(2012) Kyle J. Lehmann et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men

(2012) Min Jee Kim et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Chromosome abnormalities in Indonesian patients with short stature

(2012) Chrysantine Paramayuda et al.   Molecular Cytogenetics

Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair

(2011) Marsha D. Speevak et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

The Y chromosome in the era of intracytoplasmic sperm injection: a personal review

(2011) Sherman J. Silber   FERTILITY AND STERILITY

The likelihood of finding mature sperm cells in men with AZFb or AZFb-c deletions: six new cases and a review of the literature (1994–2010)

(2011) Sandra E. Kleiman et al.   FERTILITY AND STERILITY

Short Stature due to SHOX Deficiency: Genotype, Phenotype, and Therapy

(2011) Gerhard Binder   Hormone Research in Paediatrics

Aberrations in Pseudoautosomal Regions (PARs) Found in Infertile Men with Y-Chromosome Microdeletions

(2011) Carolina J. Jorgez et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype

(2010) Shalini C. Reshmi et al.   European Journal of Medical Genetics

Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples

(2010) Karina M. Sørensen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination that Maintains Palindromes

(2009) Julian Lange et al.   CELL

An extra X or Y chromosome: Contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome

(2009) Judith L. Ross et al.   Developmental Disabilities Research Reviews

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT

(2008) Guiqing Cai et al.   BMC Medical Genomics

Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia

(2008) I.Y. Iourov et al.   CYTOGENETIC AND GENOME RESEARCH

Clinical data and parenthood of 63 infertile and Y-microdeleted men

(2008) Catherine Patrat et al.   FERTILITY AND STERILITY

Confirmation of Single Exon Deletions in MLH1 and MSH2 Using Quantitative Polymerase Chain Reaction

(2008) Cecily P. Vaughn et al.   JOURNAL OF MOLECULAR DIAGNOSTICS