Results 111 to 120 of about 265,208 (194)

Newborn screening for central congenital hypothyroidism: past, present and future

European Thyroid Journal
Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency at birth and constitutes one of the most common causes of preventable intellectual disability worldwide.
Mark R Garrelfs, Christiaan F Mooij, Anita Boelen, A S Paul van Trotsenburg, Nitash Zwaveling-Soonawala   +4 more
doaj   +1 more source

Disruption of RNA Splicing Is an Important Contributor to Congenital Hypopituitarism and Other Human Genetic Diseases.

Endocrinology, 2023
Camper SA, Smith C, Kitzman JO.
europepmc   +1 more source

Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives

Eye and Brain, 2019
Mario Ganau,1 Sibel Huet,1 Nikolaos Syrmos,2 Marco Meloni,3 Jayaratnam Jayamohan1 1Department of Neurosurgery, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 2Department of Neurosurgery, School of Medicine, Aristotle University of ...
Ganau M, Huet S, Syrmos N, Meloni M, Jayamohan J   +4 more
doaj  

Adult Cirrhosis Due to Untreated Congenital Hypopituitarism [PDF]

Journal of the Royal Society of Medicine, 2005
Aye, Nyunt, Narinder, Kochar, Daniella T, Pilz, Jeremy G C, Kingham, M Keston, Jones   +4 more
openaire   +2 more sources

Isolated Fetal Sinus Bradycardia as a First Sign of Congenital Hypopituitarism. [PDF]

CJC Open, 2020
Lapointe S, Rottembourg D, Dallaire F.
europepmc   +1 more source

FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours. [PDF]

Pituitary
Orsmond A, Krishnan G, Palmer LJ, De Sousa SMC, McCormack A.   +4 more
europepmc   +1 more source

A case of congenital hypopituitarism harboring a nonsense variant in the <i>LHX4</i> gene. [PDF]

Clin Pediatr Endocrinol
Koizumi M, Etani Y, Kinoshita S, Yamazaki N, Okamoto N, Ida S, Kawai M.   +6 more
europepmc   +1 more source

Clinical and radiological correlation in congenital hypopituitarism - a retrospective study [PDF]

Thesis (MMed)--Stellenbosch University, 2024.ENGLISH ABSTRACT: Background: Congenital hypopituitarism can present with either an isolated pituitary hormone deficiency or multiple pituitary hormone deficiencies.
Myburgh, Chantelle
core  

NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family. [PDF]

Int J Endocrinol, 2020
Wang CZ, Guo LL, Guo QH, Mu YM.
europepmc   +1 more source