[HTML][HTML] Molecular genetics of human obesity: A comprehensive review

RK Singh, P Kumar, K Mahalingam - Comptes rendus biologies, 2017 - Elsevier
Obesity and its related health complications is a major problem worldwide. Hypothalamus
and their signalling molecules play a critical role in the intervening and coordination with …

Premature ovarian failure

D Goswami, GS Conway - Human reproduction update, 2005 - academic.oup.com
Premature ovarian failure (POF) causing hypergonadotrophic hypogonadism occurs in 1%
of women. In majority of cases the underlying cause is not identified. The known causes …

Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus

KM Call, T Glaser, CY Ito, AJ Buckler, J Pelletier… - Cell, 1990 - cell.com
We have isolated a series of genomic and cDNA clones mapping within the boundaries of
constitutional and tumor deletions that define the Wilms' tumor locus on human chromsome …

Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region

CCT Ton, H Hirvonen, H Miwa, MM Weil, P Monaghan… - Cell, 1991 - cell.com
Based on the map location of the aniridia (AN) locus in human chromosomal band 11p13,
we have cloned a candidate AN cDNA (D11S812E) that is completely or partially deleted in …

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

T Glaser, DS Walton, RL Maas - Nature genetics, 1992 - nature.com
Aniridia is a semidominant disorder in which development of the iris, lens, cornea and retina
is disturbed. The mouse mutation Small eye (Sey), which has been proposed as a model for …

Monogenic obesity in humans

IS Farooqi, S O'Rahilly - Annu. Rev. Med., 2005 - annualreviews.org
Until relatively recently, the small number of identifiable inherited human diseases
associated with marked obesity were complex, pleiotropic developmental disorders, the …

An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor

DA Haber, AJ Buckler, T Glaser, KM Call, J Pelletier… - Cell, 1990 - cell.com
We have recently described the isolation of a candidate for the Wilms' tumor susceptibility
gene mapping to band p13 of human chromosome 11. This gene, primarily expressed in …

WAGR syndrome: a clinical review of 54 cases

BV Fischbach, KL Trout, J Lewis, CA Luis, M Sika - Pediatrics, 2005 - publications.aap.org
WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13
and is clinically associated with Wilms' tumor, aniridia, genitourinary anomalies, and mental …

Tumor suppressor genes

CJ Marshall - Cell, 1991 - Elsevier
Tumor formation arises as a consequence of alterations in the control of cell proliferation
and disorders in the interactions between ceils and their surroundings that result in invasion …

BTG1, a member of a new family of antiproliferative genes.

JP Rouault, R Rimokh, C Tessa, G Paranhos… - The EMBO …, 1992 - embopress.org
The BTG1 gene locus has been shown to be involved in at (8; 12)(q24; q22) chromosomal
translocation in a case of B‐cell chronic lymphocytic leukemia. We report here the cloning …