Results 191 to 200 of about 2,076 (266)

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Claudin Proteins: Their Potential Role in Obesity and Adipose Tissue Signaling, Physiology and Disease. [PDF]

Nutrients
Fernández-García P, Villarroya F, Sánchez-Infantes D, Corrales P.   +3 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Role of FGF-19, FGF-21 and FGF-23 in Fetal and Neonatal Growth. [PDF]

J Clin Med
Rzewuska-Fijałkowska A, Kwaśniewski W, Gęca T.   +2 more
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Identification of endoplasmic reticulum stress-associated lncRNAs influencing inflammation and VSMC function in abdominal aortic aneurysm. [PDF]

Clin Sci (Lond)
Almendra-Pegueros R, Rodriguez C, Camacho M, Sánchez-Infantes D, Luis Sánchez-Quesada J, Cáncer S, Pérez-Marlasca E, Medina-Gómez G, Martinez-González J, García-Redondo AB, Galán M.   +10 more
europepmc   +1 more source

The invisible problem of early adolescent pregnancy in the Dominican Republic: a descriptive analysis. [PDF]

Prev Med Rep
González-Rodríguez E, Gil de Miguel Á, Bravo-Infantes R, Garrido-González I, Gil-Prieto R.   +4 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

[Clinical and obstetric characteristics in women with multiple sclerosis during pregnancy]. [PDF]

Rev Med Inst Mex Seguro Soc
Nava-Escobar ER, Mireles-Ramírez MA, Torres-Mendoza BM, Hernández-Preciado MR, Sánchez-Rosales NA, Márquez-Pedroza J.   +5 more
europepmc   +1 more source