Results 221 to 230 of about 3,042,424 (374)

Prediction of gestational diabetes mellitus in a high‐risk group by insulin measurement in early pregnancy [PDF]

, 2005
Tomohiro Bito, I. Földesi, Tibor Nyári, Attila Pál   +3 more
openalex   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Social representations of pregnant women about high-risk pregnancy: repercussions for prenatal care. [PDF]

Rev Esc Enferm USP, 2023
Pereira AA, Rodrigues ILA, Nogueira LMV, Palmeira IP, Nunes HHM, Andrade EGR, Silva FOD.   +6 more
europepmc   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Prediction of high-risk pregnancy based on machine learning algorithms. [PDF]

Sci Rep
Pi X, Wang J, Chu L, Zhang G, Zhang W.
europepmc   +1 more source

Clinico-epidemiological profile of women with high-risk pregnancy utilizing antenatal services in a rural primary health center in India. [PDF]

J Rural Med, 2023
Ka M, Venkatesh U, Kapoor R.
europepmc   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Impact of High-Risk Pregnancy on Peripartum Left Ventricular Function. [PDF]

Circ Rep
Komoriya Y, Komamura K, Miyake H, Umeda H, Kobayashi K, Ishiki R, Oguchi H, Murohara T, Iwase M.   +8 more
europepmc   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Minimizing the risk of high order multiples without compromising pregnancy rates: one center's 5-year experience with ovulation induction [PDF]

, 2007
Élodie Fino, D.A. Keegan, Autumn L. Edenfield, L.C. Krey, J. Grifo   +4 more
openalex   +1 more source