Results 221 to 230 of about 111,118 (342)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Incidentally Detected Congenital Bronchial Atresia in Late Adulthood: A Case Report and Imaging Review. [PDF]

Cureus
Sqalli Houssaini A, Messaoud O, Iraqi Houssaini Z, El Aoufir O, Jroundi L.   +4 more
europepmc   +1 more source

Single-cell RNA Sequencing Analysis Reveals That Targeting PLG–PLGRKT Signaling-mediated Pro-fibrotic Scar-associated Macrophages Ameliorates Liver Fibrosis in Biliary Atresia [PDF]

Xin Li, Tengfei Li, Shaowen Liu, Qianhui Yang, Yuqiang Chen, Yu Meng, Xiaodan Xu, Yilin Zhao, Yanran Zhang, Jiaying Liu, Rongjuan Sun, Alimujiang Abudureyimu   +11 more
openalex   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Correction: Trifid epiglottis in a neonate with choanal atresia and hydrometrocolpos: the third reported case and the first symptomatic neonatal presentation. [PDF]

BMC Pediatr
Khorashadizadeh M, Doostparast A, Sabahi MA, Ghahremani S.   +3 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Congenital cholesteatoma with mastoid and temporal epidural abscess in a patient with congenital aural atresia and grade II microtia: a case report

Maria R. Maharia, Eka Putra Setiawan
openalex   +1 more source

Case‐malformed signal detection and prioritisation using EUROmediCAT data for pharmacovigilance in pregnancy

British Journal of Clinical Pharmacology, Volume 92, Issue 10, Page 3586-3597, October 2026.
Aim Many women take medications during pregnancy. However, the risk to the fetus from most medications is uncertain. Congenital anomalies are one of the leading causes of infant death and contribute to long‐term disability. Signal detection methods can be used to systematically identify possible medication–anomaly associations that require further ...
Hannah Johnson, Helen Dolk, Maria Loane, Christine Damase‐Michel, Joanne Given, Hedvig Nordeng, Jorieke E. H. Bergman, Iain Carey, Elly Den Hond, Ester Garne, Florence Rouget, Lea Bruneau, Isabelle Monier, Anke Rissmann, Mary O'Mahony, Miriam Gatt, Renée Lutke, Joanna Sichitiu, Elisa Ballardini, Alessio Coi, Clara Cavero Carbonell, David Tucker, Joan Morris   +22 more
wiley   +1 more source

Hydrocolpos in a mixed-breed dog: a case report. [PDF]

Front Vet Sci
Leber C, Rohwedder T, Rehbein-Manchi S.
europepmc   +1 more source

22q11.2 microdeletion and immunological status of Vietnamese children with tetralogy of Fallot and pulmonary atresia with ventricular septal defect

Diem My Vu, Hoài Thanh Nguyễn, Phuong Anh Huynh, Như Nhật Quỳnh Nguyễn, Niệm Văn Thành Võ, Thi Bang Suong Nguyen, Quoc Anh Dao, Dang Khang Cao, Minh Khoi Le   +8 more
openalex   +1 more source