Results 141 to 150 of about 44,026 (275)

CONGENITAL HYPOTHYROIDISM: THE EFFECT OF STOPPING TREATMENT AT 3 YEARS OF AGE [PDF]

, 1984
Till Davy, Denis Daneman, Paul G. Walfish, Robert Ehrlich   +3 more
openalex   +1 more source

Congenital Hypothyroidism

Journal of Pediatric Nursing, 2013
Péter, Ferenc, Muzsnai, Ágota, Gráf, Rózsa   +2 more
openaire   +5 more sources

Sertoli cell tumor associated with ovarian sex cord tumor with annular tubules in a patient with 46 XY disorder of sex development and 9p24.3 deletion, case report

Journal of Obstetrics and Gynaecology Research, Volume 51, Issue 8, August 2025.
Abstract We report a rare case involving a 22‐year‐old phenotypically female patient who presented to our care with primary amenorrhea and spontaneous breast development. Hormonal analysis indicated hypergonadotropic hypogonadism, and imaging revealed a hypoplastic uterus and calcified ovaries.
Tabatha Petrillo, Christian Battipaglia, Elisa Semprini, Cinzia Baldessari, Marta Pirola, Olga Calabrese, Antonino Farulla, Giliana Ternelli, Albino Eccher, Laura Botticelli, Alessandro D. Genazzani   +10 more
wiley   +1 more source

Auditory Brainstem Response Audiometry in Congenitally Hypothyroid Children Under Early Replacement Therapy [PDF]

, 1986
Réal Hébert, E Laureau, Michel Vanasse, Joseph-Edouard Richard, Jean Morissette, Jacqueline Glorieux, Manon Desjardins, Jacques Letarte, Jean H. Dussault   +8 more
openalex   +1 more source

Mutations of Dual Oxidase 2 (DUOX2) Gene among patients with Permanent and Transient Congenital Hypothyroidism [PDF]

, 2012
Objective: The prevalence of congenital hypothyroidism (CH) is high in Isfahan, Iran. In addition, it has different etiologies compared with other countries. The rate of parental consanguinity is also high in the city. Moreover, DUOX2 gene is effective
Feizi, Awat., Haghjooy Javanmard, Shaghayegh., Hashemipour, Mahin., Kelishadi, Roya., Rostampour, Noushin., Salehi, Mansour., Tajeddini, Mohammad Hasan.   +6 more
core  

Immunofluorometry of thyrotropin, from whole-blood spots on filter paper, to screen for congenital hypothyroidism. [PDF]

, 1986
J. Arends, B Nørgaard‐Pedersen
openalex   +1 more source

Congenital hypothyroidism: Clinical and laboratory characteristics in infants detected by neonatal screening [PDF]

, 1981
David Price, Richard M. Ehrlich, Paul G. Walfish   +2 more
openalex   +1 more source

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes [PDF]

, 2019
Objective: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.
Antonellis, Anthony, Donaldson, Kevin, Emrick, Lisa, Gao, Mingshi, Hou, Ya-Ming, Jiang, Yanjun, Lalani, Seema R., Landsverk, Megan L., Lee, Sansan, Lewis, Andrea M., Li, Meixia, Li, Yuxin, Lin, Jie, Lu, Jiahong, Luo, Sushan, Magoulas, Pilar L., Mei, Hui, Niu, Zhiyv, Oprescu, Stephanie N., Person, Richard E., Rosenfeld, Jill A., Slavin, Thomas P., Song, Jie, Sun, Chong, Walkiewicz, Magdalena, Wang, Yin, Xi, Jianying, Yang, Yaping, Zhang, Victor W., Zhao, Chongbo   +29 more
core   +1 more source

Neurodevelopmental outcome of congenital hypothyroidism in children between 1-5 years of age

, 1970
Alieva Gulshan, B Tahmina, Ms Fouzia, R Mizanur   +3 more
openalex   +2 more sources

Low-dose radioisotope scanning and quantitative analysis in the diagnosis of congenital hypothyroidism. [PDF]

, 1982
Michael K. O’Connor, P. Freyne, Michael J. Cullen   +2 more
openalex   +1 more source