Results 21 to 30 of about 208,465 (197)

Mutations in BOREALIN cause thyroid dysgenesis. [PDF]

Hum Mol Genet, 2017
Congenital hypothyroidism is the most common neonatal endocrine disorder and is primarily caused by developmental abnormalities otherwise known as thyroid dysgenesis (TD). We performed whole exome sequencing (WES) in a consanguineous family with TD and subsequently sequenced a cohort of 134 probands with TD to identify genetic factors predisposing to ...
Carré A, Stoupa A, Kariyawasam D, Gueriouz M, Ramond C, Monus T, Léger J, Gaujoux S, Sebag F, Glaser N, Zenaty D, Nitschke P, Bole-Feysot C, Hubert L, Lyonnet S, Scharfmann R, Munnich A, Besmond C, Taylor W, Polak M.   +19 more
europepmc   +4 more sources

Does the Polymorphism in the Length of the Polyalanine Tract of FOXE1 Gene Influence the Risk of Thyroid Dysgenesis Occurrence? [PDF]

J Thyroid Res, 2017
Background.Recent data have suggested that polymorphisms in the length of the polyalanine tract (polyA) ofFOXE1gene may act as a susceptibility factor for thyroid dysgenesis.
Pimentel CP, Cortinhas-Alves EA, de Oliveira EHC, Santana-da-Silva LC.   +3 more
europepmc   +2 more sources

Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures

Frontiers in Endocrinology, 2023
BackgroundBOREALIN/CDCA8 mutations are associated with congenital hypothyroidism and thyroid dysgenesis. Borealin is involved in mitosis as part of the Chromosomal Passenger Complex.
Hortense Didier-Mathon, Athanasia Stoupa, Athanasia Stoupa, Athanasia Stoupa, Dulanjalee Kariyawasam, Dulanjalee Kariyawasam, Dulanjalee Kariyawasam, Sonny Yde, Beatrix Cochant-Priollet, Beatrix Cochant-Priollet, Lionel Groussin, Frédéric Sébag, Nicolas Cagnard, Patrick Nitschke, Dominique Luton, Michel Polak, Michel Polak, Michel Polak, Michel Polak, Michel Polak, Aurore Carré, Aurore Carré   +21 more
doaj   +1 more source

Evolution of congenital hypothyroidism in a cohort of preterm born children

Pediatrics and Neonatology, 2020
Background: Congenital hypothyroidism (CH) is reported to be more common in preterm infants than in term infants, especially in sick preterm infants.
Maria Scavone, Laura Giancotti, Elisa Anastasio, Licia Pensabene, Simona Sestito, Daniela Concolino   +5 more
doaj   +1 more source

Thyroid Dysgenesis: Multigenic or Epigenetic … or Both? [PDF]

Endocrinology, 2005
SCOPUS: sh ...
Vassart, Gilbert, Dumont, Jacques Emile
openaire   +2 more sources

A rare case of 46,XX gonadal dysgenesis, Mayer–Rokitansky–Kuster–Hauser syndrome, pituitary and thyroid hypoplasia

Endocrinology, Diabetes & Metabolism Case Reports, 2022
Mayer–Rokitansky–Kuster–Hauser syndrome is characterized by congenital absence or hypoplasia of the uterus and upper two-thirds of the vagina in both phenotypically and karyotypically normal females with functional ovaries, whereas gonadal dysgenesis is ...
Rediet Ambachew, Amare Gulilat, Tewodros Aberra, Zewdu Terefework, Wubalem Bedilu, Getahun Tarekegn, Ahmed Reja   +6 more
doaj   +1 more source

Epidemiology of Thyroid Dysgenesis: The Familial Component [PDF]

Hormone Research in Paediatrics, 2010
The pathophysiology of thyroid dysgenesis remains unclear and, until recently, this disorder was generally regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%) through the study of subjects with congenital hypothyroidism, and more recent work has revealed an even higher proportion of familial ...
Mireille, Castanet, Daniela, Marinovic, Michel, Polak, Juliane, Léger   +3 more
openaire   +2 more sources

Aberrant Thyroid in the Parapharyngeal Space

Bengal Journal of Otolaryngology and Head Neck Surgery, 2020
Introduction Aberrant thyroid is a mass of tissue having the structure of a normal or pathological thyroid gland and situated at some definite distance from normal thyroid, with which it has no connection.
Sharanabasappa Rudragouda Malipatil, Ciju K George, Isha Vidisha, Ravindrakumar Ningappa Karadi   +3 more
doaj   +1 more source

Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter

, 2004
Thyroid dysgenesis occurs sporadically with only rare familial presentation. We report a father and daughter with congenital hypothyroidism caused by different forms of thyroid dysgenesis.

core   +3 more sources

Congenital Hypothyroidism and Brain Development: Association With Other Psychiatric Disorders

Frontiers in Neuroscience, 2021
Thyroid hormones play an important role in brain development, and thyroid hormone insufficiency during the perinatal period results in severe developmental delays.
Katsuya Uchida, Mao Suzuki
doaj   +1 more source