Published in Genet Test Mol Biomarkers on June 25, 2012
Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions. J Assist Reprod Genet (2015) 0.76
Gr/gr deletions on Y-chromosome correlate with male infertility: an original study, meta-analyses, and trial sequential analyses. Sci Rep (2016) 0.75
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet (2006) 9.99
Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor. Am J Hum Genet (2004) 3.05
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. Am J Med Genet A (2005) 2.01
Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med (2009) 1.88
Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis. PLoS Med (2006) 1.42
Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study. Mitochondrial DNA (2013) 1.41
A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease. Biochem Biophys Res Commun (2012) 1.41
Tag STS in the AZF region associated with azoospermia in a Tunisian population. J Androl (2007) 1.38
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet (2010) 1.35
Y-chromosome analysis in Egypt suggests a genetic regional continuity in Northeastern Africa. Hum Biol (2002) 1.31
Mutations of the GREAT gene cause cryptorchidism. Hum Mol Genet (2002) 1.27
Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. J Pediatr Endocrinol Metab (2005) 1.24
Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. Am J Hum Genet (2006) 1.23
An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia. J Clin Endocrinol Metab (2004) 1.19
The Y chromosome and male fertility and infertility. Int J Androl (2003) 1.17
Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort. Acta Derm Venereol (2007) 1.06
Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination. Genomics (2002) 0.99
Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts. PLoS One (2009) 0.98
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Neurogenetics (2003) 0.96
Clinical, biological and genetic analysis of anorchia in 26 boys. PLoS One (2011) 0.96
AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men. Asian J Androl (2007) 0.95
Loss-of-function mutation in GATA4 causes anomalies of human testicular development. Proc Natl Acad Sci U S A (2011) 0.92
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
A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia. Mol Hum Reprod (2005) 0.92
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. PLoS One (2011) 0.91
Paternal age over 40 years: the "amber light" in the reproductive life of men? J Androl (2003) 0.91
Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure. Gene (2012) 0.89
Association of spermatogenic failure with the b2/b3 partial AZFc deletion. PLoS One (2012) 0.89
Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls. PLoS One (2010) 0.87
Y-chromosome AZFc structural architecture and relationship to male fertility. Fertil Steril (2008) 0.87
Day 3 compared with day 2 cryopreservation does not affect embryo survival but improves the outcome of frozen-thawed embryo transfers. Fertil Steril (2006) 0.87
Effects of transmission of Y chromosome AZFc deletions. Lancet (2002) 0.86
Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome. Mol Genet Metab (2009) 0.86
Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men. Mol Biol Rep (2013) 0.85
SRY gene expression in the ovotestes of XX true hermaphrodites. J Urol (2002) 0.85
Association of the MTHFR A1298C variant with unexplained severe male infertility. PLoS One (2012) 0.85
The heteroplasmic m.14709T>C mutation in the tRNA(Glu) gene in two Tunisian families with mitochondrial diabetes. J Diabetes Complications (2010) 0.84
Novel mutations involving the INSL3 gene associated with cryptorchidism. J Urol (2007) 0.84
Sperm DNA fragmentation and oxidation are independent of malondialdheyde. Reprod Biol Endocrinol (2011) 0.84
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril (2009) 0.84
A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles. Mitochondrion (2010) 0.83
[NR5A1 and ovarian failure]. Med Sci (Paris) (2009) 0.83
Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease. Ann Neurol (2011) 0.83
Association study of human leukocyte antigen-DRB1 alleles with rheumatoid arthritis in south Tunisian patients. Clin Rheumatol (2012) 0.83
Lipid peroxidation and antioxidant enzyme activities in infertile men: correlation with semen parameter. J Clin Lab Anal (2009) 0.82
Assessment of chromatin maturity in human spermatozoa: useful aniline blue assay for routine diagnosis of male infertility. Adv Urol (2013) 0.82
Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene. Neurodegener Dis (2013) 0.82
Protective effect of quercetin against oxidative stress caused by dimethoate in human peripheral blood lymphocytes. Lipids Health Dis (2011) 0.82
Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease. Gene (2012) 0.81
A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions. Biochem Biophys Res Commun (2013) 0.81
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. PLoS One (2013) 0.81
Consanguinity and disorders of sex development. Hum Hered (2014) 0.81
Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril (2009) 0.81
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. Sex Dev (2016) 0.81
The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy. Biochem Biophys Res Commun (2011) 0.81
Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients. Mol Biol Rep (2012) 0.81
Combining autosomal and Y-chromosomal short tandem repeat data in paternity testing with male child: methods and application. J Forensic Sci (2007) 0.80
Inhibin B: a marker for the functional state of the seminiferous epithelium in patients with azoospermia factor C microdeletions. J Clin Endocrinol Metab (2002) 0.80
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. Neuromuscul Disord (2003) 0.80
46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred. Am J Med Genet A (2003) 0.80
Androgen receptor gene CAG repeats length in fertile and infertile Tunisian men. Ann Genet (2004) 0.80
Genetic association between AZF region polymorphism and Klinefelter syndrome. Reprod Biomed Online (2009) 0.80
A double mutation in AGXT gene in families with primary hyperoxaluria type 1. Gene (2013) 0.79
Identification of a novel m.9588G > a missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men. J Assist Reprod Genet (2014) 0.79
A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men. Mol Reprod Dev (2013) 0.79
An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population. Mol Biol Rep (2012) 0.79
Y-chromosomal STR haplotypes in Berber and Arabic-speaking populations from Morocco. Forensic Sci Int (2004) 0.79
Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene. J Child Neurol (2010) 0.79
Association between Leptin gene polymorphisms and plasma leptin level in three consanguineous families with obesity. Gene (2013) 0.79
No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population. Horm Res (2008) 0.79
Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role. Genet Test (2008) 0.79
Chromosomal defects in infertile men with poor semen quality. J Assist Reprod Genet (2012) 0.79
Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases. Biochem Biophys Res Commun (2007) 0.78
Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis. Cell Res (2006) 0.78
Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development. Adv Exp Med Biol (2011) 0.78
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1. Am J Hum Genet (2007) 0.78
A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss. Biochem Biophys Res Commun (2010) 0.78
A cost-effective screening test for detecting AZF microdeletions on the human Y chromosome. Genet Test (2002) 0.78
The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews. Fam Cancer (2005) 0.78
LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy. Neuromuscul Disord (2007) 0.78
Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development. J Clin Endocrinol Metab (2007) 0.78
Polymorphisms of glutathione S-transferases M1, T1, P1 and A1 genes in the Tunisian population: an intra and interethnic comparative approach. Gene (2012) 0.78