Results 71 to 80 of about 44,026 (275)

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

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

ACCEPT Group Condensed Position Paper on the Management of Recurrent Pregnancy Loss

Australian and New Zealand Journal of Obstetrics and Gynaecology, EarlyView.
ABSTRACT The Australasian CREI (Certificate of Reproductive Endocrinology and Infertility) Consensus Expert Panel on Trial Evidence (ACCEPT) group recently published an evidence‐based guideline on the investigation and management of recurrent pregnancy loss (RPL).
Adriana Suker, Ying Li, Anthony Marren, Danielle Robson, the Australasian CREI (Certificate of Reproductive Endocrinology and Infertility) Consensus Expert Panel on Trial evidence (ACCEPT) Group   +4 more
wiley   +1 more source

Kisspeptin as a test of hypothalamic dysfunction in pubertal and reproductive disorders

Andrology, EarlyView.
Abstract The hypothalamic–pituitary–gonadal axis is regulated by the gonadotropin‐releasing hormone pulse generator in the hypothalamus. This is comprised of neurons that secrete kisspeptin in a pulsatile manner to stimulate the release of GnRH, and, in turn, downstream gonadotropins from the pituitary gland, and subsequently sex steroids and ...
Aureliane C. S. Pierret, Aaran H. Patel, Elisabeth Daniels, Alexander N. Comninos, Waljit S. Dhillo, Ali Abbara   +5 more
wiley   +1 more source

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

Andrology, EarlyView.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre, Ross C. Anderson, Teresa Zariñán, Rubén Gutiérrez‐Sagal, Eduardo Jardón‐Valadez, Claire L. Newton   +5 more
wiley   +1 more source

A hidden cause of infertility in hypothyroid patients [PDF]

, 2020
Methylene tetrahydrofolate reductase (MTHFR) gene mutations could be the cause of infertility in hypothyroid patients. Hence, it is worthy to screen for MTHFR gene mutations in infertile hypothyroid females and their partners if infertility persists ...
Ahmed, Soha Magdy, Allam, Magdy Mohamed, Barakat, Sherine Samir, El-Zawawy, Hanaa Tarek, Saleh, Rasha Noureldin M.   +4 more
core   +1 more source

Placental growth factor before 11 weeks for screening of preterm preeclampsia: The PreMoM study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
In this multicenter study including 3448 women with singleton pregnancies in Spain, early placental growth factor (PlGF) measurement (<11 weeks) was compared with standard timing (11–13 weeks) for preterm preeclampsia screening. Early measurements showed no added benefit over models without PlGF.
Rocío López Mármol, José Alejandro Ávila Cabreja, Teresa de Haro Romero, Catalina de Paco Matallana, Olga Ocón Hernández, Otilia González‐Vanegas, Pilar Carretero Lucena, María Paz Carrillo, Juan Luis Delgado, Valeria Rolle, Uzay Gormus, Liza Oraha, María M. Gil, Francisca S. Molina   +13 more
wiley   +1 more source

Maternal thyroid function and child educational attainment: prospective cohort study [PDF]

, 2018
Objective: To determine if first trimester maternal thyroid dysfunction is a critical determinant of child scholastic performance and overall educational attainment. Design: Prospective cohort study.
Haig, Caroline, Lawlor, Debbie A., Lindsay, Robert S., McConnachie, Alex, Nelson, Scott M., Ring, Susan M., Sattar, Naveed, Smith, George D.   +7 more
core   +3 more sources

Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women

Clinical Endocrinology, EarlyView.
ABSTRACT Context Androgen excess is common in women and refers to clinical or biochemical evidence of elevated androgenic steroids such as testosterone. It is associated with underlying polycystic ovary syndrome in the majority of cases. However severe androgen excess is less common and may indicate the presence of underlying adrenal or ovarian ...
Yasir S. Elhassan, James M. Hawley, Leanne Cussen, Ali Abbara, Sophie A. Clarke, Punith Kempegowda, Rima K. Dhillon‐Smith, Puja Thadani, Maureen Busby, Lucy Owusu‐Darkwah, Rachel Marrington, W. Colin Duncan, Robert K. Semple, Richard Quinton, Michael W. O'Reilly   +14 more
wiley   +1 more source

Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening [PDF]

, 2012
Contains fulltext : 108082.pdf (publisher's version ) (Open Access)ABSTRACT: BACKGROUND: Much is written about cognitive and motor development; less is known about social and emotional consequences of growing up with congenital ...
Grootenhuis, M.A., Kempers, M.J.E., Last, B.F., Maurice-Stam, H., Sluijs Veer, L. van der, Vulsma, T.   +5 more
core   +4 more sources