14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1289
Abstract: Chromosome 14q11‐q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2‐1(*600635), and PAX9(*167416) and a… read more here.
Keywords: clinical characterization; microdeletion syndrome; region; characterization new ... 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
Caroli syndrome: a clinical case with detailed histopathological analysis
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Journal of Gastroenterology"
DOI: 10.1007/s12328-018-0917-6
Abstract: Herein we present a clinical case of the Caroli syndrome caused by the compound heterozygous mutation in the PKHD1 gene. Histopathological assessment of liver detected biliary cirrhosis, numerous dilated bile ducts of various sizes, hyperplastic… read more here.
Keywords: clinical case; detailed histopathological; caroli syndrome; case detailed ... See more keywords
Bartter’s syndrome: clinical findings, genetic causes and therapeutic approach
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DOI: 10.1007/s12519-020-00370-4
Abstract: Backgound Bartter’s syndrome (BS) is a rare group of salt losing tubulopathies due to the impairment of transport mechanisms at the thick ascending limb of the Henle’s loop. Data sources Literature reviews and original research… read more here.
Keywords: findings genetic; bartter syndrome; clinical findings; genetic causes ... See more keywords
Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions
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DOI: 10.1016/j.arr.2016.03.002
Abstract: Werner syndrome (WS) is a prototypical segmental progeroid syndrome characterized by multiple features consistent with accelerated aging. It is caused by null mutations of the WRN gene, which encodes a member of the RECQ family… read more here.
Keywords: clinical features; therapeutic interventions; werner syndrome; pathogenesis potential ... See more keywords
Sjogren's syndrome: Clinical aspects.
Sign Up to like & getrecommendations! Published in 2017 at "Clinical immunology"
DOI: 10.1016/j.clim.2017.04.005
Abstract: Sjogren's syndrome (SS) is the 2nd most common chronic autoimmune rheumatic disease and associated with a high burden of illness. Morbidity arises not only from untreated xerostomia and keratoconjunctivitis sicca but also from extra-glandular manifestations… read more here.
Keywords: clinical aspects; sjogren syndrome; immunology; syndrome clinical ... 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
Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice.
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DOI: 10.1016/j.hoc.2019.10.002
Abstract: Myelodysplastic syndromes (MDSs) are a heterogeneous group of marrow failure disorders that primarily affect older persons but also occur at a lower frequency in children and young adults. There is increasing recognition of an inherited… read more here.
Keywords: predisposition; myelodysplastic syndrome; predisposition myelodysplastic; genetic predisposition ... See more keywords
Tarsal tunnel syndrome: Clinical-imaging analysis of a case series.
Sign Up to like & getrecommendations! Published in 2021 at "Revista espanola de cirugia ortopedica y traumatologia"
DOI: 10.1016/j.recot.2020.11.005
Abstract: BACKGROUND Retrospective review of patients with a diagnosis of Tarsal Tunnel Syndrome (TTS) treated surgically. METHODS Retrospective series of patients with diagnosis of TTS operated between 2005 and 2020 in the same center. Variables such… read more here.
Keywords: clinical imaging; tarsal tunnel; tunnel syndrome; series ... See more keywords
GCT-12. INTRACRANIAL GROWING TERATOMA SYNDROME: CLINICAL IMPLICATION FROM SINGLE UNIVERSITY EXPERIENCES
Sign Up to like & getrecommendations! Published in 2020 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noaa222.232
Abstract: Abstract In general, intracranial germ cell tumors (GCT) are sensitive to chemotherapy, radiation therapy, and have favorable outcomes. However, a rare chemotherapeutic retro conversion phenomenon, known as intracranial growing teratoma syndrome (iGTS), shown a poorer… read more here.
Keywords: teratoma syndrome; clinical implication; intracranial growing; growing teratoma ... See more keywords
Hyperviscosity in primary Sjögren's syndrome: clinical implications
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DOI: 10.1111/1756-185x.12751
Abstract: Increased serum viscosity is recognized in primary Sjögren's syndrome (pSS); however, a classic hyperviscosity syndrome (HVS) is rare. We compared the clinical and serological profile among three groups of pSS patients: (i) with HVS; (ii)… read more here.
Keywords: gren syndrome; clinical implications; primary gren; hyperviscosity primary ... See more keywords