Results 71 to 80 of about 79,932 (302)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Monogenic diabetes and pregnancy [PDF]
Obstetric Medicine, 2015 Monogenic diabetes is frequently mistakenly diagnosed as either type 1 or type 2 diabetes, yet accounts for approximately 1–2% of diabetes. Identifying monogenic forms of diabetes has practical implications for specific therapy, screening of family members and genetic counselling.
openaire +2 more sources
Bargmann–Radon transform for axially monogenic functions [PDF]
, 2020 In this paper, we study the Bargmann-Radon transform and a class of monogenic functions called axially monogenic functions. First, we compute the explicit formula of the Bargmann-Radon transform for axially monogenic functions, by making use of the Funk ...
Sommen, Franciscus +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Primary immunodeficiency disorders may present with gastrointestinal inflammation resembling inflammatory bowel disease (IBD), particularly in patients with pediatric or very‐early‐onset disease. We report a 24‐year‐old male with lifelong immune dysregulation and early‐onset IBD who was ultimately found to carry a hemizygous intronic IL2RG ...
Agustina Fainguersch +9 more
wiley +1 more source
Reciprocal Monogenic Septinomials of Degree 2n3
Annales Mathematicae SilesianaeWe prove a new irreducibility criterion for certain septinomials in ℤ[x], and we use this result to construct infinite families of reciprocal septinomials of degree 2n3 that are monogenic for all n ≥ 1.
Jones Lenny
doaj +1 more source
Frontiers in Pediatrics, 2018 Kidney stone disease is an increasingly prevalent condition with remarkable clinical heterogeneity, with regards to stone composition, age of manifestation, rate of recurrence, and impairment of kidney function.
Jan Halbritter +4 more
doaj +1 more source
Representative GO terms for monogenic parkinsonism (GOSlimPD).
, 2013 Representative GO terms for monogenic parkinsonism (GOSlimPD).
Christine Klein (178235) +13 more
core +1 more source
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia
, 2021 International audienceObjective: Primary hypobetalipoproteinemia is characterized by LDL-C (low-density lipoprotein cholesterol) concentrations below the fifth percentile.
Pichelin, Matthieu +22 more
core +1 more source
The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle +3 more
wiley +1 more source
, 2019 Whereas most people with diabetes mellitus have type 1 (T1DM) or type 2 (T2DM) diabetes, there are a number of other inherited forms of diabetes and insulin resistance syndromes, which represent up to about 5% of all cases of diabetes. Monogenic forms of
core +1 more source