Results 161 to 170 of about 130,920 (262)

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

선천성 뇌 질환의 영상 소견: 임상 화보. [PDF]

J Korean Soc Radiol
Gala F, Jain N, Salunke N.
europepmc   +1 more source

A Rare Case of Cutaneous Extramedullary Hematopoiesis in Chronic Myeloid Leukemia

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous extramedullary hematopoiesis (CEH) is a rare manifestation of extramedullary hematopoiesis (EMH), a process typically associated with fetal development or myeloproliferative neoplasms. EMH most commonly involves the spleen, liver, and lymph nodes, with CEH being exceedingly rare in chronic myeloid leukemia (CML).
Bennett Christie‐Nguyen, Hanadi El Achi, Levani Iashvili, Amer Wahed, Brenda Mai, Jacob Armstrong   +5 more
wiley   +1 more source

Midbrain Malformation Presenting With Hypogonadism and Short Stature. [PDF]

JCEM Case Rep
Sai Ramya V, Aleem S, Guddeti A, Hari Kumar KVS.   +3 more
europepmc   +1 more source

Limbal cystotomy by fine needle aspiration of a translucent iris cyst in a horse

Equine Veterinary Education, EarlyView.
Summary A 4‐year‐old Cremello crossbred mare was referred to the Equine Veterinary Teaching Hospital of Utrecht University for a translucent iris cyst from the dorsal pupillary margin corpora nigra in the right eye. Although noninvasive diode laser treatment is the preferred method of pigmented cyst ablation, two attempts did not result in disruption ...
A. L. Hendrikx, S. Veraa, J. P. A. M. van Loon, H. Hermans, I. J. M. Slenter, E. M. S. Visser   +5 more
wiley   +1 more source

Autosomal Dominant <i>FTH1</i> Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy: A Case Report. [PDF]

Neurol Genet
Hebbink JA, Niermeijer JF, Vroegindeweij E, de Vries BBA, Pegge S, Kamsteeg EJ, Willemsen MAAP.   +6 more
europepmc   +1 more source

Unravelling the Genetic Mechanisms of Litter Traits in a Maternal Line of Pigs

Journal of Animal Breeding and Genetics, EarlyView.
ABSTRACT Reproductive traits related to litter size are the main indicators of reproductive efficiency in pig production and are continuously evaluated for the selection of maternal lines. Several environmental and genetic factors are involved with the development of these traits.
Guilherme Oselame, Suelen Fernandes Padilha, Maurício Egídio Cantão, Jane de Oliveira Peixoto, Aline Zampar, Adriana Mércia Guaratini Ibelli, Luis Orlando Duitama Carreño, Jader Silva Lopes, Pedro Henrique Ferreira Freitas, Marcelo Silva Freitas, Mônica Corrêa Ledur   +10 more
wiley   +1 more source

Brain morphometry and cognition in late-onset glutaric aciduria type 1: scoping review and novel insights from a case report. [PDF]

Neurol Sci
Veronelli L, Commone A, Botti M, Remida P, Grande E, Vallar G, Parini R.   +6 more
europepmc   +1 more source

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

Efficacy and Safety of Quadruple Therapy With Semisynthetic Tetracycline for Helicobacter pylori Eradication: A Meta‐Analysis

Journal of Gastroenterology and Hepatology, EarlyView.
ABSTRACT Background High antibiotic resistance and limited tetracycline accessibility severely restrict the clinical application of classic bismuth quadruple therapy (BQT), creating an urgent demand for alternative regimens. Methods A systematic search was conducted in PubMed, Embase, Cochrane Library, and Web of Science up to June 3, 2025, for trials ...
Qi‐Qi Guo, Ju Zhang, Xiao‐Jing Zhu, Wei‐Yue Li, Dan‐Yang Zhao, Meng‐Qi Liang, Rong Yan, Yong‐Quan Shi   +7 more
wiley   +1 more source