Results 81 to 90 of about 27,677 (151)

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

A case of severe combined pathology in a late premature infant with hypoxic-ischemic damage to the central nervous system

Медицинский вестник Юга России
A 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, S. B. Berezhanskaya, O. Z. Puzikova, A. A. Afonin, M. S. Kasyan, K. G. Matyukh, V. A. Popova, M. A. Levkovich, I. I. Krukier, I. V. Panova, A. V. Moskovkina, D. I. Sozaeva   +11 more
doaj   +1 more source

Bronchopneumonia and Multiorgan Dysfunction in a 10-month-old Infant with Down Syndrome

Magna Medika
Background: Common chromosomal disorders like Down Syndrome (DS) are linked to a high rate of congenital abnormalities, especially hypothyroidism and congenital heart disease (CHD).
Dwi Wulandari, Yusian Eri Fitria, Aty Frisianty   +2 more
doaj   +1 more source

Epidemiological characteristics of congenital hypothyroidism and risk factors for permanent congenital hypothyroidism in Gansu, China. [PDF]

BMC Pediatr
Hu J, Li X, Wang J, Li J, Shi Y, Chen Y, Dou Y, Da C, Su Y, Wang W.   +9 more
europepmc   +1 more source

Cost-effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism in Hubei, China. [PDF]

BMJ Open
Wang B, Zhang H, Xia Y, Liu X, Wu Q, Song J, Han J, Ning K.   +7 more
europepmc   +1 more source

Congenital Hypothyroidism and Atherosclerosis: An Endocrine Model of Early-Life Cardiovascular Risk. [PDF]

J Cardiovasc Dev Dis
Tzoraki M, Duntas LH.
europepmc   +1 more source

Genetic screening and functional characterization of <i>DUOX2</i> mutations in patients with congenital hypothyroidism. [PDF]

J Endocr Soc
Huang SH, Sun F, Luo F, Li HL, Huang HL, Guo JM, Guo C, Zhang XH, Zhao SX, Wei BK, Song HD, Li R, Cheng F.   +12 more
europepmc   +1 more source

Retrospective, multicentre evaluation of central congenital hypothyroidism in the UK. [PDF]

Eur Thyroid J
Peters C, Wood C, Law JM, Stevens C, Alhusaini F, Rigby D, Hornby H, Cheetham T, Schoenmakers N.   +8 more
europepmc   +1 more source

Metabolomic and inflammatory signatures in congenital hypothyroidism: a longitudinal analysis of levothyroxine response. [PDF]

Front Endocrinol (Lausanne)
Vela-Amieva M, Ibarra-González I, Calzada León R, Ruiz-Reyes ML, Constantini ME, Guillén-López S, López-Mejía L, Luna-Nequiz MC, Carrillo-Nieto RI, Fernández-Lainez C.   +9 more
europepmc   +1 more source

Dual ectopic thyroid located at the tongue base and left parapharyngeal space with transient congenital hypothyroidism. [PDF]

JCEM Case Rep
Kiuchi K, Kusano C, Hori N, Narumi S, Hasegawa T.   +4 more
europepmc   +1 more source