Results 111 to 120 of about 29,638 (237)
Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature
Clinical Genetics, Volume 109, Issue 6, Page 1076-1080, June 2026.The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley +6 more
wiley +1 more source
Epidemiology of neonatal congenital hypothyroidism during 2011-2017 [PDF]
, 2020 Introduction: Neonatal hypothyroidism is a condition of treatable thyroid deficiency that can lead to severe retardation if not diagnosed on time or inappropriately treated.
Askarpour, Hassan +8 more
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Journal of Medical Primatology, Volume 55, Issue 3, June 2026.ABSTRACT Background Thyroid disease is reported in orangutans, but to properly diagnose and manage these disorders, reference intervals for circulating thyroid hormones are needed. Methods Commercial immunoassay kits for total thyroxine (TT4) and free thyroxine (FT4) were validated for use in orangutans (Pongo spp.).
Melissa A. Fayette +4 more
wiley +1 more source
Медицинский вестник Юга РоссииA clinical observation of severe combined pathology in a newborn child with congenital hypothyroidism against the background of hypoxic-ischemic damage to the central nervous system is presented.
L. V. Kravchenko +11 more
doaj +1 more source
Neonatal screening for congenital hypothyroidism in Pakistan
, 1989 Congenital hypothyroidism is a preventable cause of mental retardation. Since clinical signs of congenital hypothyroidism do not generally become obvious before three months of age, screening programmes have been introduced in North America and Europe ...
Lakhani, Murntaz +3 more
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Congenital nystagmus and central hypothyroidism
, 2015 We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1.
Reynaert, Nele +2 more
core +1 more source
CONGENITAL HYPOTHYROIDISM WITH ISOLATED FIBULA AGENESIS
, 2010 Although congenital hypothyroidism is seen often as an isolated case, it can also be seen as a part of some syndromes like Schinzel-Giedion, Aicardi-Goutieres-like, cleidocranial dysplasia and deletion of 18q.
Caksen, Hueseyin +5 more
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Thyrotrophin-blocking antibodies in congenital hypothyroidism
, 1992 The role of transplacental transfer of maternal thyrotrophin (TSH)-blocking antibodies causing congenital hypothyroidism in Southern Chinese children was examined in this study.
Kung, AWC, Low, LCK
core +1 more source
Coexistence of Congenital Chylous Ascites and Congenital Hypothyroidism: Case Report
, 2012 Chylous ascites is a rare clinical entity occurring as the result of the extravasation of the chyle into the peritoneal cavity. A 20-day newborn admitted to our clinic with high level of thyroid stimulating hormone (TSH) and abdominal distension was ...
Yüksekkaya, Hasan Ali +4 more
core +1 more source