Results 91 to 100 of about 9,333,061 (296)

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Dolichocolon is common in pediatric gastroenterology patients with constipation and associated complaints

Journal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 2, Page 407-414, February 2026.
Abstract Objectives Dolichocolon (DC), classified under International Classification of Diseases, Tenth Revision (ICD‐10) code Q43.8 (“Other specified congenital malformations of intestine”), refers to an elongated or redundant large intestine. Recent studies in adults indicate a role for dolichocolon in constipation and disorders of gut‐brain ...
David Simon, Donovan Berens, Raul Zambrana Valenzuela, Arvind Mohan, Partha Chakraborty, Timot Kellermayer, Eric H. Chiou, Craig L. Jensen, Ricardo A. Arbizu, Marla B. K. Sammer, Richard Kellermayer   +10 more
wiley   +1 more source

Konventionelle histologische Diagnostik in der Koloproktologie [PDF]

, 2018
Zusammenfassung: Die histologische Diagnostik mit formalinfixiertem und in Paraffin eingebettetem Gewebe hat mit der Einführung immunhistochemischer Methoden in der Koloproktologie große Fortschritte gebracht.
Bruder, E., Meier-Ruge, W.A.
core  

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease [PDF]

, 2015
published_or_final_versio
Antinolo, G, Bleda, M, Borrego, S, Cherny, SS, Dopazo, J, Enguix-Riego, MDV, Espino-Paisan, L, Fernandez, RM, Garcia-Barcelo, MM, GUI, H, Luzon-Toro, B, Ruiz-Ferrer, M, Sham, PC, Tam, PKH, Tang, SM, Torroglosa, A   +15 more
core   +2 more sources

Identification of neural crest and melanoma cancer cell invasion and migration genes using high‐throughput screening and deep attention networks

Developmental Dynamics, Volume 255, Issue 1, Page 25-42, January 2026.
Abstract Background Cell migration and invasion are well‐coordinated in development and disease but remain poorly understood. We previously showed that the neural crest (NC) cell migratory wavefront shares a 45‐gene panel with other cell invasion phenomena.
J. C. Kasemeier‐Kulesa, S. Martina Perez, R. E. Baker, P. M. Kulesa   +3 more
wiley   +1 more source

Educational Case: Hirschsprung Disease

Academic Pathology, 2019
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Lauren Kroll-Wheeler MD, Allecia M. Wilson MD   +1 more
doaj   +1 more source

Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population [9] [PDF]

, 2007
published_or_final_versio
Chan, EKW, GarciaBarceló, MM, Lan, LCL, Lau, DKC, Leon, TYY, Liu, TT, Lui, VCH, Miao, X, So, MT, Tam, PKH, Wong, KKY   +10 more
core   +1 more source

Variants of Hirschsprung disease

Seminars in Pediatric Surgery, 2012
Variants of Hirschsprung disease are conditions that clinically resemble Hirschsprung disease, despite the presence of ganglion cells in rectal suction biopsies. The characterization and differentiation of various entities are mainly based on histologic, immunohistochemical, and electron microscopy findings of biopsies from patients with functional ...
Prem, Puri, Jan-Hendrik, Gosemann
openaire   +2 more sources

Effects of potato-derived protease inhibitors on perianal dermatitis after colon resection for long-segment Hirschsprung's disease [PDF]

, 2018
Background: After resection of long-segment Hirschsprung's disease, severe perianal dermatitis (SPAD) may occur because of high stool frequency and elevated concentrations of fecal pancreatic proteases.
Berger, Steffen, Boillat, Colette, Klimek, Peter, Rufener, Janine, Zachariou, Zacharias   +4 more
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