LMOD3‐Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Ultrasound in Medicine"
DOI: 10.1002/jum.14520
Abstract: To describe the prenatal presentation, including ultrasonographic, histologic, and molecular findings, in 2 fetuses affected with LMOD3‐related nemaline myopathy. Prenatal ultrasonographic examinations and histopathologic studies were performed on 2 fetuses with evidence of nemaline myopathy.… read more here.
Keywords: myopathy prenatal; affected fetuses; prenatal ultrasonographic; nemaline myopathy ... See more keywords
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2127
Abstract: KBG syndrome is a rare genetic disorder involving macrodontia of the upper central incisors, craniofacial, skeletal, and neurologic symptoms, caused either by a heterozygous variant in ANKRD11 or deletion of 16q24.3, including ANKRD11. Diagnostic criteria… read more here.
Keywords: kbg syndrome; findings seven; molecular findings; syndrome clinical ... See more keywords
Ocular alterations, molecular findings, and three novel pathological mutations in a series of NF2 patients
Sign Up to like & getrecommendations! Published in 2019 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-019-04348-5
Abstract: PurposeTo evaluate ophthalmological and molecular findings in eight patients with a clinical diagnosis of neurofibromatosis type 2 (NF2). New pathological mutations are described and variability in the ophthalmic phenotype and NF2 allelic heterogeneity are discussed.MethodsEye… read more here.
Keywords: pathological mutations; ocular alterations; alterations molecular; three novel ... See more keywords
Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
Sign Up to like & getrecommendations! Published in 2020 at "Metabolic brain disease"
DOI: 10.1007/s11011-020-00632-0
Abstract: Glutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene mutations. In this study, we report 24 symptomatic GA-1 Brazilian patients, and… read more here.
Keywords: clinical biochemical; biochemical molecular; gcdh gene; molecular findings ... See more keywords
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000443
Abstract: The 3MC syndromes types 1–3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. Patients with 3MC syndrome have a distinctive facial… read more here.
Keywords: molecular findings; findings previously; phenotypic; spectrum 3mc ... See more keywords
Bronchoalveolar lavage as a diagnostic procedure: a review of known cellular and molecular findings in various lung diseases.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of thoracic disease"
DOI: 10.21037/jtd-20-651
Abstract: Bronchoalveolar lavage (BAL) is a commonly used procedure in the evaluation of lung disease as it allows for sampling of the lower respiratory tract. In many circumstances, BAL differential cell counts have been reported to… read more here.
Keywords: bronchoalveolar lavage; review; lung diseases; molecular findings ... See more keywords
Intradural Pediatric Spinal Tumors: An Overview from Imaging to Novel Molecular Findings
Sign Up to like & getrecommendations! Published in 2021 at "Diagnostics"
DOI: 10.3390/diagnostics11091710
Abstract: Pediatric spinal tumors are rare and account for 10% of all central nervous system tumors in children. Onset usually occurs with chronic nonspecific symptoms and may depend on the intra- or extradural neoplastic location. Meningiomas,… read more here.
Keywords: pediatric spinal; spinal tumors; tumors overview; overview imaging ... See more keywords
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient
Sign Up to like & getrecommendations! Published in 2020 at "Genes"
DOI: 10.3390/genes11060596
Abstract: Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in… read more here.
Keywords: clinical molecular; pitt hopkins; syndrome clinical; hopkins syndrome ... See more keywords