Results 41 to 50 of about 5,018 (164)

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

Case Reports in Genetics, 2014
Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare.
Sébastien Mbuyi-Musanzayi, Toni Lubala Kasole, Aimé Lumaka, Tony Kayembe Kitenge, Leon Kabamba Ngombe, Prosper Kalenga Muenze, Prosper Lukusa Tshilobo, François Tshilombo Katombe, Célestin Banza Lubaba Nkulu, Koenraad Devriendt   +9 more
doaj   +1 more source

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter, Jens‐Peter Schenk, Jenny Wegert, Manfred Gessler, Leo Kager, Stefan Wagenpfeil, Marina Müller, Jean‐Michel Wolff, Joerg Fuchs, Steven W. Warmann, Clemens‐Magnus Meier, Jochen Hubertus, Christian Rübe, Christian Vokuhl, Patrick Melchior, Lena Tschirner, Norbert Graf, Rhoikos Furtwängler   +17 more
wiley   +1 more source

A Rare Side Effect of Diazoxide Therapy: Pulmonary Hipertension

Journal of Behçet Uz Children's Hospital, 2020
We present a newborn diagnosed with Beckwith-Wiedemann syndrome and hypoglycemia, and developed pulmonary hypertension due to initiated diazoxide treatment because of these indications.
Alper Hazım Gürsu, Emine Azak, Eda Mengen, Sevim Ünal, Ibrahim Ilker Cetin   +4 more
doaj   +1 more source

Genetic Evaluation and Pregnancy Outcomes in Foetuses With Overgrowth at a Tertiary Referral Center

Journal of Cellular and Molecular Medicine, Volume 30, Issue 14, July 2026.
ABSTRACT Fetal overgrowth is defined as one or more biometric parameters exceeding the 90th–97th percentile or 2 standard deviations above the mean for gestational age. This study aimed to evaluate genetic findings in foetuses diagnosed with sonographic overgrowth.
Xiaoqing Wu, Qingmei Shen, Xiaorui Xie, Yuqin Chen, Bin Liang, Meiying Wang, Danhua Guo, Na Lin, Liangpu Xu   +8 more
wiley   +1 more source

A case report of beckwith-wiedemann syndrome [PDF]

Journal of Kerman University of Medical Sciences, 2002
beckwith and wiedemann for the first time described a syndrome characterised by macroglossia,macrosomia and omphalocele.nowadays inaddition to the above symptoms,visceromegaly,mild microcephaly,facial nevus flammeus,earlobe cerase,persistent neonatal ...
B Basiri, M SHekohi
doaj  

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1337-1346, June 2026.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, Volume 109, Issue 6, Page 999-1006, June 2026.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source

Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci

Cell Proliferation, Volume 59, Issue 6, June 2026.
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley   +1 more source

Excellent Outcomes With High‐Risk Pediatric Hepatoblastoma: A Detailed Analysis of a Large, Single‐Center Experience

Pediatric Transplantation, Volume 30, Issue 6, June 2026.
This large single‐center experience demonstrates that liver transplantation is a highly effective curative strategy for high‐risk pediatric hepatoblastoma. Recurrence risk is driven by tumor biology and treatment timing rather than metastatic disease at diagnosis.
Valeria Ripa, Robert S. Venick, Samer Ebaid, Noah Federman, Nicole Charland, Caitlin J. Thornley, Jonathan Jou, Brandon Pearson, Vatche G. Agopian, Fady M. Kaldas, Suzanne V. McDiarmid, Douglas G. Farmer   +11 more
wiley   +1 more source