Results 31 to 40 of about 44,731 (229)

Genetics and genomic medicine in Argentina [PDF]

, 2018
A historical summary of genetics and genomic medicine in Argentina. We go through the achievements and difficulties in the implementation of genetic and genomic services both in academia and health care.Fil: Vishnopolska, Sebastián Alexis.
Avena, Barbero, Borrajo, Borrajo, Botto, Botto, Brenner, Chiesa, Christianson, Di Lonardo, Egeland, González-Morón, Groisman, Homburger, Kling, Kling, Langou, Liascovich, Ma, Nemirovsky, Orrego, Penchaszadeh, Ruitberg, Seldin, Stevenson, Therrell, Therrell, Vázquez   +27 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Parathyroid localization [PDF]

, 1986
Twenty-nine consecutive patients with suspected primary hyperparathyroidism were examined preoperatively using ultrasound, sonographically guided fine needle aspiration, and aspirate immunostaining for PTH.
Borisch, B., Gutekunst, R., Hafermann, W., Kiffner, E., Löhrs, U., Scriba, Peter Christian, Thies, E., Valesky, A.   +7 more
core   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Congenital hypothyroidism in different cities of the Isfahan province: A descriptive retrospective study

Journal of Education and Health Promotion, 2019
BACKGROUND: Considering the high prevalence rate of congenital hypothyroidism CH in Iran, an epidemiological study in each region would be helpful in understanding the etiology of the disorder and providing preventative strategies in this field.
Zeinab Hemati, Mahin Hashemipour, Silva Hovsepian, Marjan Mansourian, Masoud Zandieh, Mahshid Ahmadian, Marzie Dalvi, Serajoddin Arefnia, Roya Kelishadi   +8 more
doaj   +1 more source

The Iowa Perinatal Letter, April-May-June 2008, Vol. 29, no. 2 [PDF]

, 2008
This newsletter from The Department of Public Health about perinatal health care and ...

core  

Trends in Scottish newborn screening programme for congenital hypothyroidism 1980-2014: strategies for reducing age at notification after initial and repeat sampling [PDF]

, 2017
Objectives: To determine ages at first capillary sampling and notification and age at notification after second sampling in Scottish newborns referred with elevated thyroid-stimulating hormone (TSH).
Donaldson, Malcolm, Fitch, Moira, Jones, Jeremy, Mansour, Chourouk, Mason, Avril, Ouarezki, Yasmine, Smith, Sarah   +6 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Frequency of congenital hypothyroidism in new born admitted with neonatal jaundice at tertiary care hospital peshawar

Journal of Rawalpindi Medical College, 2023
Neonatal jaundice is a common disorder worldwide affecting 30-70% of newborn infants. Severe neonatal jaundice and its progression to kernicterus is a leading cause of death and disability among newborns in poorly-resourced countries. OBJECTIVES: To
Abdul Ahad, Romana Bibi, Sijad Ur Rehman, Majid Ali Shah, Matea Ullah, Shahinda   +5 more
doaj   +1 more source

Novas perspectivas no diagnóstico do hipogonadismo pediátrico masculino: a importância do AMH como marcador de células de Sertoli [PDF]

, 2011
Sertoli cells are the most active cell population in the testis during infancy and childhood. In these periods of life, hypogonadism can only be evidenced without stimulation tests, if Sertoli cell function is assessed.
Grinspon, Romina, Rey, Rodolfo Alberto
core   +2 more sources