Results 211 to 220 of about 79,932 (302)

Towards precision medicine in diabetes: pharmacogenomic approaches for MODY and type 2 diabetes with insights from GLIS3 gene variants. [PDF]

Front Endocrinol (Lausanne)
Lenin A, Sajini Rajayan J.
europepmc   +1 more source

Genetic Testing in Movement Disorders: Riding the Wave Without Being Swept Under

Movement Disorders, EarlyView.
Alessio Di Fonzo, Francesca Magrinelli
wiley   +1 more source

Fetal Intracranial Hemorrhage: What to Tell Expecting Parents?

Prenatal Diagnosis, EarlyView.
ABSTRACT Fetal intracranial hemorrhage (ICH) is a rare but serious prenatal diagnosis, and counseling affected families remains challenging. In this narrative review, we summarize current evidence on the classification, epidemiology, etiology, diagnosis and neurodevelopmental outcomes of fetal ICH, with a primary focus on intraventricular hemorrhage ...
Shiri Shinar, Yada Kunpalin, Elka Miller
wiley   +1 more source

Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients. [PDF]

J Hum Immun
Gkantaras A, ESID Registry Working Party, Seidel MG.   +2 more
europepmc   +1 more source

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

TBC1D4-Related Monogenic Diabetes: Molecular Mechanisms, Clinical Recognition, and Therapeutic Implications. [PDF]

J Diabetes
Wang W, Ma L, Dong B, Gao P, Sun X.
europepmc   +1 more source

Non‐Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality

Prenatal Diagnosis, EarlyView.
ABSTRACT Haemoglobinopathies are the most prevalent monogenic disorders worldwide, contributing significantly to childhood morbidity and mortality. Preventive strategies, including carrier screening and prenatal diagnosis, have successfully reduced disease incidence in regions with established programmes.
Irene Leonidou, Leila Sallie, Morgan Jean Bell‐Ricketts, Alexandros Abdel Massih, Lisa Joy Kaiser, Ashley Hoi Kiu Wong, María Teresa Martín Monreal, Panicos Shangaris   +7 more
wiley   +1 more source

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study. [PDF]

Epilepsia Open
Pirker AP, Ernst M, Wagner M, Bonelli SB, Trimmel K, Jud J, Graf E, Dorfer C, Rössler K, Aull-Watschinger S, Pataraia E, Zimprich F, Krenn M.   +12 more
europepmc   +1 more source

The monogenic forms of obesity in Saudi families. [PDF]

Hum Mol Genet
Almolafikh ST, Alshatwi AA, Orfali R, AlSaud H.   +3 more
europepmc   +1 more source