User profiles for Jeremy Kirk

Jeremy Kirk

Verified email at nhs.net
Cited by 8984

[HTML][HTML] Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

…, J Collins, WK Chong, JMW Kirk… - The Journal of …, 2006 - Am Soc Clin Investig
The transcription factor SOX2 is expressed most notably in the developing CNS and placodes,
where it plays critical roles in embryogenesis. Heterozygous de novo mutations in SOX2 …

[PDF][PDF] Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

…, V Cormier-Daire, L Faivre, M Lees, J Kirk… - The American Journal of …, 2004 - cell.com
The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also
known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic …

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization

…, VM Duke, A Robertson, JMW Kirk… - Clinical …, 2001 - Wiley Online Library
OBJECTIVE The association of idiopathic hypogonadotrophic hypogonadism (IHH) with
congenital olfactory deficit defines Kallmann's syndrome (KS). Although a small proportion of …

[PDF][PDF] Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1

…, A Seller, J Poulton, D Collier, J Kirk… - The American Journal of …, 1999 - cell.com
Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by
juvenile-onset diabetes mellitus and progressive optic atrophy. mtDNA deletions have been …

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

F Khanim, J Kirk, F Latif, TG Barrett - Human mutation, 2001 - Wiley Online Library
Wolfram syndrome (WS) is the inherited association of juvenile‐onset insulin‐dependant
diabetes mellitus and progressive bilateral optic atrophy. A nuclear gene, WFS1/wolframin, was …

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.

…, S Compain, P Bouloux, J Kirk… - Proceedings of the …, 1992 - National Acad Sciences
Kallmann syndrome represents the association of hypogonadotropic hypogonadism with
anosmia. This syndrome is from a defect in the embryonic migratory pathway of gonadotropin-…

Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome

JMW Kirk, CE Brain, DJ Carson, JC Hyde… - The Journal of …, 1999 - Elsevier
McCune-Albright syndrome consists of fibrous dysplasia of bone, café-au-lait skin pigmentation,
and endocrine dysfunction (usually precocious puberty). Other endocrine abnormalities …

Phenotypic variability in 17β‐hydroxysteroid dehydrogenase‐3 deficiency and diagnostic pitfalls

YS Lee, JMW Kirk, RG Stanhope… - Clinical …, 2007 - Wiley Online Library
Objective 17β‐hydroxysteroid dehydrogenase type 3 isoenzyme (17β‐HSD3) is required to
produce testosterone for male sex differentiation. Mutations in the HSD17B3 gene cause …

Constitutional guarantees, characterisation and the concept of proportionality

J Kirk - Melbourne University Law Review, 1997 - search.informit.org
Constitutional guarantees, characterisation and the concept of proportionality Page 1 The
National Library supplies copies of this article under licence from the Copyright Agency …

[PDF][PDF] Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human …

…, LG Biesecker, M Skae, C Smith, T Cole, J Kirk… - The American Journal of …, 2011 - cell.com
3-M syndrome, a primordial growth disorder, is associated with mutations in CUL7 and
OBSL1. Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome. …