McElreavey, Ken, 1963-
Kenneth McElreavey researcher (ORCID 0000-0001-6582-1801)
McElreavey, Kennneth, 1963-....
McElreavey, Kenneth
Macelreavey, Ken
VIAF ID: 5102934 (Personal)
Permalink: http://viaf.org/viaf/5102934
Preferred Forms
- 100 0 _ ‡a Kenneth McElreavey ‡c researcher (ORCID 0000-0001-6582-1801)
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- 200 _ | ‡a McElreavey ‡b Ken ‡f 1963-....
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- 100 1 _ ‡a McElreavey, Ken ‡d 1963-
- 100 1 _ ‡a McElreavey, Ken ‡d 1963-
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- 100 1 _ ‡a McElreavey, Ken, ‡d 1963-
- 100 1 _ ‡a McElreavey, Kenneth
- 100 1 _ ‡a McElreavey, Kennneth, ‡d 1963-....
4xx's: Alternate Name Forms (10)
Works
Title | Sources |
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An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia | |
An ancient protein-DNA interaction underlying metazoan sex determination | |
Association of spermatogenic failure with the b2/b3 partial AZFc deletion | |
Association of the MTHFR A1298C variant with unexplained severe male infertility | |
Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion | |
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1. | |
A child with a novel de novo mutation in the aristaless domain of the aristaless-related homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay. | |
Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls | |
Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature | |
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis | |
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys | |
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome | |
Déchiffrement du mécanisme moléculaire de la détermination du sexe. | |
Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes | |
Deciphering the molecular mechanisms of gonadal development | |
DHX37 and 46,XY DSD: A New Ribosomopathy? | |
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance. | |
Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD. | |
Early recognition of gonadal dysgenesis in congenital nephrotic syndrome | |
Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center. | |
Étude des gènes impliqués dans le déterminisme gonadique chez l'homme | |
Facteurs génétiques et épigénétiques associés à l'infertilité masculine. | |
Familial early puberty: presentation and inheritance pattern in 139 families | |
Familial forms of disorders of sex development may be common if infertility is considered a comorbidity | |
First study of microdeletions in the Y chromosome of Algerian infertile men with idiopathic oligo- or azoospermia | |
The genetic basis of male infertility, c1999: | |
Genetic study of gonadal development in human. | |
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele | |
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome | |
Identification of a homozygous GFPT2 variant in a family with asthenozoospermia | |
Identification of a novel mutation of LAMB3 gene in a lybian patient with hereditary epidermolysis bullosa by whole exome sequencing | |
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. | |
Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations | |
Loss-of-function mutation in GATA4 causes anomalies of human testicular development | |
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. | |
Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome | |
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome | |
Mutations in NR5A1 associated with ovarian insufficiency | |
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy | |
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. | |
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. | |
Next generation sequencing for disorders of sex development | |
No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population | |
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort | |
A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD. | |
Novel mutations involving the INSL3 gene associated with cryptorchidism | |
Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination | |
Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men. | |
Paternal age over 40 years: the "amber light" in the reproductive life of men? | |
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome | |
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity | |
Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome | |
Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts. | |
Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men. | |
Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis | |
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development | |
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD) | |
Report of fertility in woman with predominantly 46,XY karyotype in family with multiple disorders of sexual development: review of prismatic case | |
Semen quality analysis of military personnel from six geographical areas of the People's Republic of China | |
Specific aspects of consanguinity: some examples from the Tunisian population | |
The TALE homeodomain of PBX1 is involved in human primary testis-determination | |
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene | |
Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis. | |
Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor | |
Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis | |
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness | |
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome. | |
Y-chromosomal STR haplotypes in Berber and Arabic-speaking populations from Morocco | |
Y-chromosome analysis in Egypt suggests a genetic regional continuity in Northeastern Africa | |
Y-chromosome AZFc structural architecture and relationship to male fertility. | |
Y chromosome haplogroups: a correlation with testicular dysgenesis syndrome? | |
Y chromosome variants and male reproductive function | |
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling. |