Genetic regulation of pituitary gland development in human and mouse

D Kelberman, K Rizzoti, R Lovell-Badge… - Endocrine …, 2009 - academic.oup.com
Normal hypothalamopituitary development is closely related to that of the forebrain and is
dependent upon a complex genetic cascade of transcription factors and signaling molecules …

Neuroendocrine causes of amenorrhea—an update

LT Fourman, PK Fazeli - The Journal of Clinical Endocrinology & …, 2015 - academic.oup.com
Context: Secondary amenorrhea—the absence of menses for three consecutive cycles—
affects approximately 3–4% of reproductive age women, and infertility—the failure to …

Adrenal insufficiency

W Arlt, B Allolio - The lancet, 2003 - thelancet.com
Adrenal insufficiency is caused by either primary adrenal failure (mostly due to autoimmune
adrenalitis) or by hypothalamic-pituitary impairment of the corticotropic axis (predominantly …

Septo-optic dysplasia

EA Webb, MT Dattani - European Journal of Human Genetics, 2010 - nature.com
This review summarises the key clinical features of septo-optic dysplasia (SOD), the
significant inroads that progress in genetics has made into our understanding of the …

A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications

DW Metry, AN Haggstrom, BA Drolet… - American journal of …, 2006 - Wiley Online Library
Abstract PHACE (OMIM no. 606519) is a neurocutaneous syndrome that refers to the
association of large, plaque‐like,“segmental” hemangiomas of the face, with one or more of …

Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human

LJ Richards, C Plachez, T Ren - Clinical genetics, 2004 - Wiley Online Library
The development of the corpus callosum depends on a large number of different cellular
and molecular mechanisms. These include the formation of midline glial populations, and …

Over-and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

KS Woods, M Cundall, J Turton, K Rizotti… - The American Journal of …, 2005 - cell.com
Duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism
associated with mental retardation (MR). Additionally, an expansion of a polyalanine tract …

Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances

KS Alatzoglou, EA Webb, P Le Tissier… - Endocrine …, 2014 - academic.oup.com
The diagnosis of GH deficiency (GHD) in childhood is a multistep process involving clinical
history, examination with detailed auxology, biochemical testing, and pituitary imaging, with …

Genetic forms of hypopituitarism and their manifestation in the neonatal period

KS Alatzoglou, MT Dattani - Early human development, 2009 - Elsevier
The anterior pituitary gland is a central regulator of growth, reproduction and homeostasis.
The development of the pituitary gland depends on the sequential temporal and spatial …

Molecular basis of combined pituitary hormone deficiencies

LE Cohen, S Radovick - Endocrine Reviews, 2002 - academic.oup.com
Pituitary gland commitment from oral ectoderm occurs in response to inductive signals from
the neuroepithelium of the ventral diencephalon. Invagination of the oral ectoderm leads to …