Results 211 to 220 of about 735,725 (294)

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

open access: yesClinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund   +5 more
wiley   +1 more source

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

open access: yesClinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti   +9 more
wiley   +1 more source

Lean Polycystic Ovarian Syndrome Has Better Responses toRecombinant Follicle-Stimulating Hormone Compared to ObesePCOS during Ovarian Stimulation for <i>In Vitro</i> Fertilization:A Cross-Sectional Study. [PDF]

open access: yesInt J Fertil Steril
Muharam R   +10 more
europepmc   +1 more source

No Female Germline Stem Cells Were Identified by Advanced Dual Recombinase‐Based Lineage Tracing System

open access: yesCell Proliferation, EarlyView.
Schematic summary of the dual‐recombinase lineage tracing strategies to determine whether female germline stem cells (fGSCs) exist and sustain the ovarian follicle pool in adult female mice. Our study concluded that no fGSCs exist and contribute to oocyte regeneration in adult female mice with different tracing systems. ABSTRACT Whether female germline
Yang Gao   +7 more
wiley   +1 more source

International consensus recommendations for identifying malnutrition in children with neurological impairment

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Children with neurological impairment (CNI) are at increased risk of malnutrition because of functional, medical, and socioeconomic challenges. However, difficulties in obtaining reliable anthropometric measurements and differences in body composition limit the usefulness of conventional nutritional indicators.
Sarah Vermilyea   +19 more
wiley   +1 more source

Weight Regain After Incretin Treatment: The Lean Mass Deficit Hypothesis and a Role for Testosterone Combination Therapy in Men

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background Glucagon‐like peptide‐1 receptor agonists (GLP‐1RAs), dual glucose‐dependent insulinotropic polypeptide (GIP)/GLP‐1RA and triple (GIP)/GLP‐1RA/glucagon agonists achieve placebo‐subtracted weight loss of 15% to 22%. Their long‐term value depends on how well the weight loss is maintained and on the composition of weight loss, not only
Michael Zitzmann   +3 more
wiley   +1 more source

Expression of Follicle-Stimulating Hormone Receptor in Von Hippel-Lindau Associated Tumors and Cysts: An Immunohistochemical Study. [PDF]

open access: yesJ Kidney Cancer VHL
Ghinea N   +8 more
europepmc   +1 more source

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