Results 141 to 150 of about 66,521 (260)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother [PDF]

, 2009
Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities ...
Kumar, Arvind, Taksande, AM, Vilhekar, KY   +2 more
core  

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

Epilepsy in Chinese Children With Mowat–Wilson Syndrome: Two Case Reports and Literature Review

Journal of Paediatrics and Child Health, EarlyView.
Xuelin Huang, Dongling Yang, Jinqiu Wang, Qingqing Zhao, Yuyi Chen, Fengping Wei, Yiyan Ruan   +6 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Presumptive Congenital Unilateral Renal Agenesis With Contralateral Dysplasia/Hypoplasia in a Golden Retriever

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
A 4‐year‐old Golden Retriever presented with polyuria, polydipsia and severe azotaemia, with multimodal imaging revealing complete presumptive left renal agenesis with a small dysplastic remnant and severe presumptive right renal dysplasia/hypoplasia with loss of normal corticomedullary architecture. To the authors’ knowledge, this represents the first
Hyewon Moon
wiley   +1 more source

Gallbladder agenesis with common bile duct stone - A rare case with a brief review of the literature

The Turkish Journal of Gastroenterology, 2011
Amit MITTAL, Sanjeev SINGAL, Rikki SINGAL, Vinod MEHTA   +3 more
doaj   +1 more source

Heart Rate Variability in Newborns From Diabetic Mothers: Clinical Application and Significance

Annals of Noninvasive Electrocardiology, Volume 31, Issue 3, May 2026.
Risk factors for GDM contribute to a hyperglycemic intrauterine environment, which may in turn impair ANS function in the offspring. Altered ANS activity can be assessed through measures such as HRV. ABSTRACT Gestational diabetes mellitus (GDM) is one of the most common pregnancy complications, arising from inadequate insulin secretion and increased ...
Virginia Beretta, Laura Cannavò, Sebastiano Ravenda, Chiara Petrolini, Vincenzo Raitano, Sabrina Moretti, Valentina Dell'Orto, Serafina Perrone   +7 more
wiley   +1 more source

L1CAM Promotes the Infiltrative Properties of Patient‐Derived Glioblastoma Cells

Cancer Science, Volume 117, Issue 5, Page 1380-1396, May 2026.
In vivo validation of L1CAM‐mediated GBM infiltration. Orthotopic transplantation of L1CAM‐expressing GBM cells into mouse brains demonstrated that L1CAM significantly promotes tumor cell infiltration and expansion in the brain parenchyma, confirming its critical role in the aggressive progression of GBM.
Asako Katsuma, Daisuke Kanematsu, Yukako Handa, Tomoko Shofuda, Atsuyo Yamamoto, Kayo Nishitani, Zhize Xiao, Daisuke Kawauchi, Kentarou Baba, Naoyuki Inagaki, Yonehiro Kanemura   +10 more
wiley   +1 more source

Long‐Term Psychosocial Outcomes in Japanese Mayer–Rokitansky–Küster–Hauser Syndrome: A Single‐Center Study

Journal of Obstetrics and Gynaecology Research, Volume 52, Issue 5, May 2026.
ABSTRACT Aim Vaginal creation enables sexual intercourse in patients with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. However, long‐term psychosocial outcomes, particularly in Japanese patients, remain underreported. This study aimed to explore the long‐term psychosocial outcomes associated with different choices of vaginal creation in patients ...
Asuka Okunomiya, Kaori Tsuyuki, Takuma Ohsuga, Tsutomu Ohara, Akihiro Yanai, Rin Mizuno, Koji Yamanoi, Miho Egawa, Masaki Mandai   +8 more
wiley   +1 more source