Results 51 to 60 of about 4,320,960 (307)

RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations

The Application of Clinical Genetics, 2022
Natana Chaves Rabelo,1– 3 Maria Eduarda Gomes,1– 3 Isabelle de Oliveira Moraes,1– 3 Juliana Cantagalli Pfisterer,1– 3 Guilherme Loss de Morais,4 Deborah Antunes,5 Ernesto Raúl Caffarena,6 Juan Llerena Jr,1,2,7,8 Sayonara Gonzalez1– 3 1Centro de Genética ...
Chaves Rabelo N, Gomes ME, de Oliveira Moraes I, Cantagalli Pfisterer J, Loss de Morais G, Antunes D, Caffarena ER, Llerena Jr J, Gonzalez S   +8 more
doaj  

Collagen cross-linking in thin corneas

Indian Journal of Ophthalmology, 2013
Collagen cross-linking (CXL) has become the standard of care for progressive keratoconus, after numerous clinical studies have established its efficacy and safety in suitably selected eyes. The standard protocol is applicable in eyes which have a minimum
Prema Padmanabhan, Abhishek Dave
doaj   +1 more source

Identification of Genetic Heterogeneity of Alzheimer’s Disease across Age

Neurobiology of Aging, 2019
The risk of APOE for Alzheimer’s Disease (AD) is modified by age. Beyond APOE, the polygenic architecture may also be heterogeneous across age. We aim to investigate age-related genetic heterogeneity of AD and identify genomic loci with differential ...
Min-Tzu Lo, K. Kauppi, C. Fan, Nilotpal Sanyal, Emilie T. Reas, V. Sundar, Wen-Chung Lee, R. Desikan, L. McEvoy, Chi-Hua Chen   +9 more
semanticscholar   +1 more source

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Genetic response to environmental heterogeneity

Nature, 1974
Uploaded by Plazi for TaxoDros. We do not have abstracts.
J F, McDonald, F J, Ayala
openaire   +3 more sources

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source

Rare BLK, CEL, KLF11, PDX1, and PAX4 Gene Variants in Russian Patients with Monogenic Diabetes: Clinical and Molecular Characterization

Biomedicines
Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic diabetes forms that are frequently misclassified as type 1 or type 2 diabetes due to overlapping phenotypic features.
Rita I. Khusainova, Ildar R. Minniakhmetov, Dmitry N. Laptev, Mariya P. Koltakova, Roman V. Deev, Bulat I. Yalaev, Yaroslav V. Dvoryanchikov, Elena A. Sechko, Natalia G. Mokrysheva   +8 more
doaj   +1 more source

Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do

Journal of Multidisciplinary Healthcare, 2022
Lavinia Caba,1,* Laura Florea,2,* Elena Emanuela Braha,3,* Valeriu Vasile Lupu,4,* Eusebiu Vlad Gorduza1,* 1Department of Mother and Child Medicine – Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, Iaşi,
Caba L, Florea L, Braha EE, Lupu VV, Gorduza EV   +4 more
doaj  

The Molecular Characterization of Genetic Abnormalities in Esophageal Squamous Cell Carcinoma May Foster the Development of Targeted Therapies

Current Oncology, 2023
Esophageal cancer is among the most common tumors in the world and is associated with poor outcomes, with a 5-year survival rate of about 10–20%. Two main histological subtypes are observed: esophageal squamous cell carcinoma (ESCC), more frequent among ...
Ugo Testa, Germana Castelli, Elvira Pelosi   +2 more
doaj   +1 more source

Genetic heterogeneity in infantile spasms

Epilepsy Research, 2019
Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS.
Alison M. Muir, Candace T. Myers, N. T. Nguyen, J. Saykally, D. Craiu, P. de Jonghe, I. Helbig, Dorota Hoffman, R. Guerrini, A. Lehesjoki, C. Marini, R. Møller, J. Serratosa, K. Sterbova, P. Striano, Sarah von Spiczak, S. Weckhuysen, H. Mefford   +17 more
semanticscholar   +1 more source