Results 181 to 190 of about 15,020 (275)

Unclassified Inborn Errors of Immunity Patients without any Pathogenic Variant in Targeted Next-Generation Sequencing: Long-Term Follow-up and Whole Exome Sequencing Results. [PDF]

J Clin Immunol
Bas I, Topyildiz E, Ulgen E, Sahin P, Tokgoz Erdis G, Durmaz A, Karaca NE, Aksu G, Aykut A, Kutukculer N.   +9 more
europepmc   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, Volume 109, Issue 6, Page 1076-1080, June 2026.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results. [PDF]

Eur J Hum Genet
Riedhammer KM, Richthammer P, Westphal DS, Ćomić J, Günthner R, Braunisch MC, Büscher AK, Klein HG, Weber S, Hoefele J.   +9 more
europepmc   +1 more source

Genotype–Phenotype Spectrum of Non‐Syndromic Monogenic Obesity in a National Paediatric Cohort

Pediatric Obesity, Volume 21, Issue 6, June 2026.
ABSTRACT Objective Non‐syndromic monogenic obesity, caused by defects in the leptin‐melanocortin pathway, presents with early‐onset severe obesity and hyperphagia, but genotype–phenotype and metabolic correlations across different genetic forms remain unclear.
Ahmet Kahveci, Selin Uzun Karauzum, Hayrullah Manyas, Behiye Sarikaya Ozdemir, Zerrin Orbak, Ummahan Tercan, Ruken Yildirim, Nihal Hatipoglu, Fatih Kilci, Hatice Nursoy, Servan Ozalkak, Baris Kolbasi, Semra Cetinkaya, Hazal Canbaz Ozdemir, Mesut Parlak, Filiz Tutunculer Kokenli, Emine Camtosun, Saime Ergen Dibeklioglu, Gonul Buyukyilmaz, Ayse Derya Bulus, Hanife Gul Balki, Ayse Ozden, E. Nazli Gonc, Elif Ozsu, Huseyin Demirbilek, Melek Yildiz, Samim Ozen, Abdullah Bereket, Belma Haliloglu   +28 more
wiley   +1 more source

Genetic and epidemiological patterns of primary immunodeficiency diseases in Eastern Iranian patients. [PDF]

Sci Rep
Salehi M, Ahanchian H, Karimiani EG, Aelami MH, Moazzen N, Neshati Z, Pasdar A.   +6 more
europepmc   +1 more source

PM2 Highlights of Core Themes

Highlights of the CT sessions will be published on the public area of the CA-RES website. The Coordinator will have the mandate to produce and publish highlights after each plenary meeting. The contents will be based on the main outcomes of the Core Theme sessions and will be published after approval from the CT leaders.
openaire   +1 more source

Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia. [PDF]

Nephrol Dial Transplant
Thakare S, Lila A, Keskar V, Geetha T, Kumar Bs K, Rao N, Joga A, Shirke P, Sardar A, Bothara R, Kadu P, Thakur G, Modi T, Bose S, Bajpai D, More T, Kedar P, Deshmukh B, Pai N, Jadhav P, Bandgar T, Hase N, Jamale T.   +22 more
europepmc   +1 more source

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients. [PDF]

Eur J Pediatr
Güneş N, Türk S, Onur H, Gür K, Yüksel Elgin C, Çifçi Sunamak E, Uludağ Alkaya D, Eroğlu AG, Tüysüz B.   +8 more
europepmc   +1 more source

<i>KCNQ2</i> Variants in Neonatal Epilepsy: Clinical Characteristics and Neurodevelopmental Outcomes in 30 Patients. [PDF]

Neurol Genet
Li Y, Li J, Li L, Zhang H, Sun X.
europepmc   +1 more source

Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.

Horm Res Paediatr
Aouchiche K, Romanet P, Charnay T, Barlier A, Roche C, Grunenwald S, Le Collen L, Porques Bordes V, Barat P, Castinetti F, Brue T, Reynaud R, Saveanu A.   +12 more
europepmc   +1 more source