Published in Int J Androl on February 01, 2006
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Evolution of the DAZ gene and the AZFc region on primate Y chromosomes. BMC Evol Biol (2008) 0.96
Correlation of intergenerational family sizes suggests a genetic component of reproductive fitness. Am J Hum Genet (2007) 0.93
Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers. BMC Genomics (2007) 0.88
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In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet (2003) 2.21
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry (2012) 1.94
Influence of sickle cell disease and treatment with hydroxyurea on sperm parameters and fertility of human males. Haematologica (2008) 1.71
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet (2012) 1.48
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet (2010) 1.35
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry (2009) 1.32
Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clin Dysmorphol (2007) 1.07
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. Orphanet J Rare Dis (2013) 1.01
Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts. PLoS One (2009) 0.98
Transcription in haploid male germ cells. Int Rev Cytol (2004) 0.97
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis (2012) 0.97
Sperm fluorescence in situ hybridization study in nine men carrying a Robertsonian or a reciprocal translocation: relationship between segregation modes and high-magnification sperm morphology examination. Fertil Steril (2011) 0.93
GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure. Fertil Steril (2006) 0.92
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. Eur J Hum Genet (2011) 0.91
Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts. Fertil Steril (2011) 0.90
A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation. Eur J Med Genet (2010) 0.90
Multidrug resistance-associated protein (MRP1) is overexpressed in DNA aneuploid carcinomatous cells in non-small cell lung cancer (NSCLC). Int J Cancer (2005) 0.87
Y-chromosome AZFc structural architecture and relationship to male fertility. Fertil Steril (2008) 0.87
Tail stump syndrome associated with chromosomal translocation in two brothers attempting intracytoplasmic sperm injection. Fertil Steril (2006) 0.85
Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter. Am J Med Genet A (2007) 0.85
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. Eur J Med Genet (2013) 0.85
Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling. Eur J Med Genet (2012) 0.84
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril (2009) 0.84
Sequestration of connexin43 in the early endosomes: an early event of Leydig cell tumor progression. Mol Carcinog (2003) 0.83
[NR5A1 and ovarian failure]. Med Sci (Paris) (2009) 0.83
Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays. Eur J Med Genet (2009) 0.83
Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier. J Hum Genet (2005) 0.82
Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity? Hum Reprod (2013) 0.82
Eutopic endometrium and peritoneal, ovarian and bowel endometriotic tissues express a different profile of matrix metalloproteinases-2, -3 and -11, and of tissue inhibitor metalloproteinases-1 and -2. Virchows Arch (2004) 0.82
Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism. Case Rep Genet (2013) 0.81
Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders. Arthritis Rheumatol (2014) 0.81
Immunolocalization and cell expression of lung resistance-related protein (LRP) in normal and tumoral human respiratory cells. J Histochem Cytochem (2007) 0.80
Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers. J Assist Reprod Genet (2013) 0.80
Discovery of a large deletion of KAL1 in 2 deaf brothers. Otol Neurotol (2013) 0.80
Expression of apoptosis-related proteins in peritoneal, ovarian and colorectal endometriosis. J Reprod Immunol (2005) 0.78
Y chromosome haplogroups: a correlation with testicular dysgenesis syndrome? APMIS (2003) 0.77
Fluorescence in situ hybridization and immunohistochemical analysis of p53 expression in endometrial cancer: prognostic value and relation to ploidy. Ann Surg Oncol (2007) 0.77
Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome. Reprod Biomed Online (2012) 0.76
Endometrium from women with and without endometriosis, and peritoneal, ovarian and bowel endometriosis, show different c-kit protein expression. J Reprod Immunol (2005) 0.76
Heritable disease and sperm donation. JAMA (2010) 0.75
[Y chromosome and male infertility: what is a normal Y chromosome?]. J Soc Biol (2008) 0.75
Finding a single XY cell among XX cells in amniotic fluid by FISH: a possible consequence of a vanishing male twin? Prenat Diagn (2007) 0.75
Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers. Hum Reprod (2013) 0.75
Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements. Am J Med Genet A (2014) 0.75
CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature. Eur J Hum Genet (2003) 0.75