Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23781
Abstract: Hereditary elliptocytosis (HE) is a heterogeneous red blood cell membrane disorder characterized by the presence of elliptocytes on a peripheral blood smear. Clinical manifestations of HE vary widely from asymptomatic carriers to patients with severe… read more here.
Keywords: clinical molecular; hereditary elliptocytosis; elliptocytosis; molecular genetic ... See more keywords
Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.
Sign Up to like & getrecommendations! Published in 2021 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-030-80614-9_13
Abstract: Cutis laxa (CL) syndromes are a large and heterogeneous group of rare connective tissue disorders that share loose redundant skin as a hallmark clinical feature, which reflects dermal elastic fiber fragmentation. Both acquired and congenital-Mendelian-… read more here.
Keywords: clinical molecular; homeostasis; laxa syndromes; cutis ... See more keywords
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02383-z
Abstract: Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders… read more here.
Keywords: clinical molecular; associated neurodevelopmental; disorder description; disorder ... See more keywords
Prognostic value of Ki-67 index in adult medulloblastoma after accounting for molecular subgroup: a retrospective clinical and molecular analysis
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neuro-Oncology"
DOI: 10.1007/s11060-018-2865-x
Abstract: IntroductionMedulloblastoma (MB) is a rare primary brain tumor in adults. We previously evaluated that combining both clinical and molecular classification could improve current risk stratification for adult MB. In this study, we aimed to identify… read more here.
Keywords: clinical molecular; index; adult; prognostic value ... See more keywords
Clinical and molecular characterization of isolated M1 disease in pediatric medulloblastoma: experience from the German HIT-MED studies
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neuro-Oncology"
DOI: 10.1007/s11060-021-03913-5
Abstract: To evaluate the clinical impact of isolated spread of medulloblastoma cells into cerebrospinal fluid without additional macroscopic metastases (M1-only). The HIT-MED database was searched for pediatric patients with M1-only medulloblastoma diagnosed from 2000 to 2019.… read more here.
Keywords: disease; hit med; year pfs; medulloblastoma ... See more keywords
Clinical and molecular characterization of children with neonatal diabetes mellitus at a tertiary care center in northern India
Sign Up to like & getrecommendations! Published in 2017 at "Indian Pediatrics"
DOI: 10.1007/s13312-017-1049-7
Abstract: ObjectiveTo study the genetic mutations and clinical profile in children with neonatal diabetes mellitusMethodsGenetic evaluation, clinical management and follow-up of infants with neonatal diabetesResultsEleven infants were studied of which eight had permanent neonatal diabetes. Median… read more here.
Keywords: clinical molecular; molecular characterization; characterization children; diabetes mellitus ... See more keywords
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Sign Up to like & getrecommendations! Published in 2018 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2017.12.011
Abstract: Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2… read more here.
Keywords: clinical molecular; mitochondrial encephalomyopathy; consanguineous family; analysis ... See more keywords
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104285
Abstract: Recently, an autosomal recessive disorder including the triad of microcephaly, infantile epileptic encephalopathy, and permanent neonatal diabetes syndrome (MEDS, OMIM#614231) has emerged as a new distinguishing syndrome. Eight cases of whom seven from Arab countries,… read more here.
Keywords: clinical molecular; meds syndrome; case; report meds ... See more keywords
Clinical and molecular correlates in fragile X premutation females
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DOI: 10.1016/j.ensci.2017.04.003
Abstract: The prevalence of the fragile X premutation (55–200 CGG repeats) among the general population is relatively high, but there remains a lack of clear understanding of the links between molecular biomarkers and clinical outcomes. In… read more here.
Keywords: clinical molecular; premutation; molecular correlates; clinical phenotypes ... See more keywords
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2016.11.004
Abstract: BACKGROUND There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region. OBJECTIVE… read more here.
Keywords: clinical molecular; ibero american; spain portugal; american countries ... See more keywords
Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.
Sign Up to like & getrecommendations! Published in 2019 at "Jornal de pediatria"
DOI: 10.1016/j.jped.2018.03.003
Abstract: OBJECTIVE To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. METHODS A cross-sectional study was… read more here.
Keywords: clinical molecular; screening program; program implementation; adrenal hyperplasia ... See more keywords