Results 211 to 220 of about 66,364 (302)

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Infantile-Onset Vanishing White Matter Disease in an Azerbaijani Infant With a Homozygous EIF2B5 p.(Arg195His) Variant. [PDF]

Cureus
Isayev C, Haciyeva I, Hasanov E, Hasanova F, Samadov P.   +4 more
europepmc   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene. [PDF]

Mol Cytogenet
Tekmenuray-Unal A, Oz A, Aydın S.
europepmc   +1 more source

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report. [PDF]

Mol Genet Metab Rep
Sharma A, Vashist M, Kaushik R, Rohilla G, Narwal S.   +4 more
europepmc   +1 more source

FTH1‐Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia

Movement Disorders Clinical Practice, EarlyView.
Sayoni Roy Chowdhury, Sangeetha Yoganathan, Vivek Pai, Andrea LeBlanc‐Millar, Vann Chau, Roberto Mendoza‐Londono, Lucie Dupuis, Carolina Gorodetsky   +7 more
wiley   +1 more source

A Biomimetic Micro‐Nano System Maximizing ‘Active Transport and Retention’ Effect in Solid Tumors

Small, EarlyView.
The Active Transport and Retention (ATR) strategy is realized using a biomimetic micro‐nano system (PG@BAM‐LRC), achieving superior tumor accumulation and efficacy in low‐EPR pancreatic tumors. Platelet (PG)‐derived microcarriers enable tumor‐homing and MMP‐9‐responsive release of nanoliposomes (LRC), while berbamine (BAM) promotes transendothelial ...
Kaiyun Yang, Jiajia Su, Alan J. Davidson, Zimei Wu, Wenli Zhang   +4 more
wiley   +1 more source

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With <i>COASY</i> Protein Associated Neurodegeneration. [PDF]

JIMD Rep
Lynch M, Manoy S, Murray C, Wallace G, Pereira N, Price R, Inwood A, McGill J, Coman D.   +8 more
europepmc   +1 more source