Results 41 to 50 of about 79,932 (302)

The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age

Diabetology & Metabolic Syndrome, 2023
Background A maturity-onset diabetes of the young (MODY) calculator has been described and validated for use in European Caucasians. This study evaluated its performance in Brazilians diagnosed with diabetes mellitus (DM) before 35 years of age.
Augusto Cezar Santomauro, Áurea Luiza Fernandes Magalhães, Flávia Tedesco Motta, Lucas Santos de Santana, Pedro Campos Franco, Silvia Maria de Freitas, Jeniffer Johana Duarte Sanchez, Aline Dantas Costa-Riquetto, Milena G. Teles   +8 more
doaj   +1 more source

Monogenic and epistatic effects of Col17a1 mutations.

, 2023
Monogenic and epistatic effects of Col17a1 mutations.
Benjamin E. Low (8031092), J. Keith Joung (15102654), Thomas J. Sproule (16535011), Michael V. Wiles (8031101), Deepak Reyon (163252), Robert Y. Wilpan (17101887), Derry C. Roopenian (14879414), Kathleen A. Silva (9142877), John P. Sundberg (7251050)   +8 more
core   +1 more source

Clinical heterogeneity in monogenic chylomicronaemia [PDF]

, 2022
Chylomicronaemia accompanies hypertriglyceridaemia, usually due to a polygenic predisposition in combination with secondary risk factors. Monogenic chylomicronaemia represents a small subgroup of patients with hypertriglyceridaemia.
Bemelmans, Remy H H, Heidemann, Britt E., Heidemann, Britt E, Marais, A David, Marais, A. David, Koopal, Charlotte, Visseren, Frank L J, Bemelmans, Remy H.H., Visseren, Frank L.J., Unit Opleiding Aios, Circulatory Health, Interne Geneeskunde Vasculaire   +11 more
core   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Maturity-Onset Diabetes of the Young (MODY): Genetic Causes, Clinical Characteristics, Considerations for Testing, and Treatment Options

Endocrines, 2021
Maturity Onset Diabetes of the Young (MODY) encompasses a group of rare monogenic forms of diabetes distinct in etiology and clinical presentation from the more common forms of Type 1 (autoimmune) and Type 2 diabetes.
Zoltan Antal
doaj   +1 more source

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source

Finely differentiable monogenic functions [PDF]

, 2006
summary:Since 1970’s B. Fuglede and others have been studying finely holomorhic functions, i.e., ‘holomorphic’ functions defined on the so-called fine domains which are not necessarily open in the usual sense.
Lávička, Roman
core   +1 more source

INHERITANCE OF DURATION, LEAF COLOUR, STERILITY MOSAIC DISEASE RESISTANCE AND GROWTH HABIT IN PIGEONPEA

Madras Agricultural Journal, 1997
Direct and reciprocal crosses were attempted between two contrasting pigeonpea varieties viz., Vamban-1 and Gulbarga-1. The study of parents, hybrids and F2 segregating population revealed that the characters such as duration, leaf colour, resistance to ...
S.MURUGESAN, E.MURUGAN and N.NADARAJAN
doaj   +1 more source

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

Frontiers in Genetics, 2023
Background: Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric ...
Maayan Kagan, Maayan Kagan, Maayan Kagan, Rotem Semo-Oz, Rotem Semo-Oz, Rotem Semo-Oz, Yishay Ben Moshe, Yishay Ben Moshe, Danit Atias-Varon, Irit Tirosh, Irit Tirosh, Irit Tirosh, Michal Stern-Zimmer, Michal Stern-Zimmer, Aviva Eliyahu, Aviva Eliyahu, Annick Raas-Rothschild, Annick Raas-Rothschild, Maayan Bivas, Maayan Bivas, Omer Shlomovitz, Omer Shlomovitz, Odelia Chorin, Odelia Chorin, Odelia Chorin, Rachel Rock, Rachel Rock, Rachel Rock, Michal Tzadok, Michal Tzadok, Bruria Ben-Zeev, Bruria Ben-Zeev, Gali Heimer, Gali Heimer, Gali Heimer, Yoav Bolkier, Yoav Bolkier, Noah Gruber, Noah Gruber, Noah Gruber, Adi Dagan, Adi Dagan, Adi Dagan, Bat El Bar Aluma, Bat El Bar Aluma, Bat El Bar Aluma, Itai M. Pessach, Itai M. Pessach, Itai M. Pessach, Gideon Rechavi, Gideon Rechavi, Gideon Rechavi, Ortal Barel, Ortal Barel, Ortal Barel, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked, Yair Anikster, Yair Anikster, Yair Anikster, Asaf Vivante, Asaf Vivante, Asaf Vivante, Asaf Vivante   +65 more
doaj   +1 more source

ON THE ?- MONOGENIC FUNCTIONS

Communications, Faculty Of Science, University of Ankara Series A1Mathematics and Statistics, 1965
Bu yazıda “S — monojenik” adı verilen bir fonksiyon ailesine ait bir kısım tarifler herhangi bir kompleks fonksiyona teşmil edilmiş ve bunların bazı uygulaması yapdmıştır [1], [2] (♦♦).
openaire   +2 more sources