User profiles for Jeremy Kirk
Jeremy KirkVerified 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
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 …
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
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 …
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 …
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
Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by
juvenile-onset diabetes mellitus and progressive optic atrophy. mtDNA deletions have been …
juvenile-onset diabetes mellitus and progressive optic atrophy. mtDNA deletions have been …
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases
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 …
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-…
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 …
and endocrine dysfunction (usually precocious puberty). Other endocrine abnormalities …
Phenotypic variability in 17β‐hydroxysteroid dehydrogenase‐3 deficiency and diagnostic pitfalls
Objective 17β‐hydroxysteroid dehydrogenase type 3 isoenzyme (17β‐HSD3) is required to
produce testosterone for male sex differentiation. Mutations in the HSD17B3 gene cause …
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 …
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 …
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. …
OBSL1. Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome. …