Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry.
Minarik L et al.
Folia Biologica, 2020
Novel combined insulin-like 3 variations of a single nucleotide in cryptorchidism.
Sinopidis X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Genetic analysis of the human Insulin-like 3 gene: absence of mutations in a Greek paediatric cohort with testicular maldescent.
Mamoulakis C et al.
Andrologia, 2014
Morphogenetic targets and genetics of undescended testis.
Massart F et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2010
INSL3/RXFP2 signaling in testicular descent.
Feng S et al.
Annals of the New York Academy of Sciences, 2009
Hormonal and genetic control of testicular descent.
Ferlin A et al.
Reproductive Biomedicine Online, 2007
Genetic causes of male infertility.
Ferlin A et al.
Reproductive Toxicology (elmsford, N.y.), 2006
Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome: clinical and functional characterization.
Ferlin A et al.
Molecular Human Reproduction, 2006
Cryptorchidism: an indicator of testicular dysgenesis?
Kaleva M et al.
Cell and Tissue Research, 2005
Mutation analysis of INSL3 and GREAT/LGR8 genes in familial cryptorchidism.
Feng S et al.
Urology, 2004
GREAT/LGR8 is the only receptor for insulin-like 3 peptide.
Bogatcheva NV et al.
Molecular Endocrinology (baltimore, Md.), 2003
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism.
Ferlin A et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism.
Marin P et al.
American Journal of Medical Genetics, 2001