Results 211 to 220 of about 752,656 (293)

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

Clinical 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, Esben Thyssen Vestergaard, Edvard Marinovskij, Dorte Launholt Lildballe, Jenny Blechingberg, Morten Krogh Herlin   +5 more
wiley   +1 more source

Successful Pregnancy in An Infertile Woman with Regular Menstruation and Autoimmune Oophoritis: A Case Report and Literature Review. [PDF]

Int J Fertil Steril
Chen L, Kong Y, Yu W, Shen K, Sun X, Yang Y, Qu X.   +6 more
europepmc   +1 more source

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

Clinical 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, Xenia Latypova, Faustine Ageorges, Antonio Vitobello, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Georges Gelwane, Cherine Benzouid, Yline Capri   +9 more
wiley   +1 more source

Pyroptotic Macrophage Extracellular Vesicles Drive miR-103a-3p Mediated Mitochondrial Dysfunction in Granulosa Cells in Diminished Ovarian Reserve. [PDF]

Aging Cell
Ju W, Xin X, Xiao Y, Song L, Zhang J, Xiang S.   +5 more
europepmc   +1 more source

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

Cell 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, Zhiming Shen, Xiuhong Cui, Min Chen, Mengyue Wang, Kui Liu, Fei Gao, Hongmei Wang   +7 more
wiley   +1 more source

International consensus recommendations for identifying malnutrition in children with neurological impairment

Developmental 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, Jodi Wolff, Gina Rempel, Jessie M. Hulst, Koen Huysentruyt, Mandy Neudecker, Denise Kennedy, Valérie Marchand, Erika Ochoa‐Ortiz, Richard D. Stevenson, Promoting International Collaboration for Nutrition in Neurological Impairment in Children (PICNNIC) Working Group, Lucinda Lourens, Mark Conaway, Tejas S. Desai, Mercedes Ruiz Brunner, Nathalia Sanchez Vargas, Valeria Martinez Tenorio, Kristie L. Bell, Claudio Romano, Richard Grossberg   +19 more
wiley   +1 more source

Diagnostic Challenge in Cytology: Fibrosing Thyroiditis Mimicking Medullary Thyroid Carcinoma. [PDF]

J Cytol
Anju G, Rao M, Sharma N.
europepmc   +1 more source

Immune‐competent organ‐on‐chip methodologies to study type 1 diabetes

Diabetic Medicine, EarlyView.
Abstract Aims Type 1 diabetes (T1D) is a self‐driving autoimmune condition leading to the death of insulin‐producing β‐cells of the pancreas. β‐cell‐reactive immune cell extravasation into the intra‐islet space is fuelled by a cycle of inflammation including immune, vascular and endocrine dysfunction. Since clinical pancreatic biopsy is contraindicated,
Maja Witowska, Luigi Margiotta‐Casaluci, Periklis Pantazis, Margarita Dominguez‐Villar, Victoria Salem   +4 more
wiley   +1 more source