Prenatal diagnosis of a rare β‐thalassemia gene －90 (C>T) (HBB: c.‐140 C>T) mutation associated with deletional Hb H disease (‐‐SEA/‐α 4.2)
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1472
Abstract: Hemoglobin H (Hb H) disease can be caused by compound heterozygosity for two different mutations or from homozygotes for mutations, and conventional genetic methods may lead to misdiagnosis when Hb H disease is combined with… read more here.
Keywords: rare thalassemia; diagnosis rare; thalassemia gene; disease ... See more keywords
Genetic Diagnosis of Rare Diseases: Past and Present
Sign Up to like & getrecommendations! Published in 2020 at "Advances in Therapy"
DOI: 10.1007/s12325-019-01176-1
Abstract: Rare diseases are heterogeneous life-threatening or seriously debilitating conditions that affect < 1 in 2000 individuals, and most have a genetic component. The diagnostic process is usually based on classic clinical practices, such as physical… read more here.
Keywords: diagnosis rare; diagnosis; rare diseases; genetic diagnosis ... See more keywords
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Sign Up to like & getrecommendations! Published in 2017 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2017.04.003
Abstract: Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their “diagnostic odyssey,” improves disease management, and fosters genetic counseling with respect to recurrence risks while… read more here.
Keywords: diagnosis rare; diagnosis; rare diseases; genetics ... See more keywords
Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.07.004
Abstract: Diaphanospondylodysostosis (DSD) is a rare autosomal recessive skeletal disorder, characterized mainly by ossification defects in vertebrae, thorax malformations, renal cystic dysplasia and usually death in the perinatal period. DSD is caused by mutations in the… read more here.
Keywords: diaphanospondylodysostosis refining; diagnosis rare; skeletal disorder;
Reference exome data for a Northern Brazilian population
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Data"
DOI: 10.1038/s41597-020-00703-y
Abstract: Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a… read more here.
Keywords: exome data; diagnosis rare; reference; data northern ... See more keywords
Testing strategies used in the diagnosis of rare inherited bleeding disorders.
Sign Up to like & getrecommendations! Published in 2023 at "Expert review of hematology"
DOI: 10.1080/17474086.2023.2211257
Abstract: ABSTRACT Introduction Rare Bleeding Disorders have a low population prevalence and may not be recognized by most clinicians. In addition, knowledge gaps of the indicated laboratory tests and their availability add to the potential for… read more here.
Keywords: used diagnosis; strategies used; diagnosis; testing strategies ... See more keywords
Cytological diagnosis of a rare case of α‐fetoprotein producing gastric‐type adenocarcinoma of the uterine cervix
Sign Up to like & getrecommendations! Published in 2019 at "Cytopathology"
DOI: 10.1111/cyt.12688
Abstract: The fourth edition of the World Health Organization classification recently described two types of cervical adenocarcinoma: usual type and gastric type. These two sets differ with histology, immunostaining, HPV status, and prognosis. The tumor of… read more here.
Keywords: diagnosis rare; rare case; cytological diagnosis; type ... See more keywords
Diagnosis of rare bleeding disorders
Sign Up to like & getrecommendations! Published in 2022 at "Haemophilia"
DOI: 10.1111/hae.14561
Abstract: Rare bleeding disorders result in significant morbidity but are globally underdiagnosed. Advances in genomic testing and specialist laboratory assays have greatly increased the diagnostic armamentarium. This has resulted in the discovery of new genetic causes… read more here.
Keywords: pathology; bleeding disorders; rare bleeding; diagnosis rare ... See more keywords
Imaging Diagnosis of a Rare Presacral Tumour
Sign Up to like & getrecommendations! Published in 2017 at "Polish Journal of Radiology"
DOI: 10.12659/pjr.900522
Abstract: Summary Background Primary tumors in the presacral (retrorectal) space are extremely rare in adults, with an estimated incidence of 0.0025 to 0.014 in large referral centers. Congenital varieties are most common and comprise two thirds… read more here.
Keywords: diagnosis rare; imaging diagnosis; diagnosis; guided biopsy ... See more keywords
Prenatal diagnosis of rare genetic conditions at a tertiary care hospital in Karachi.
Sign Up to like & getrecommendations! Published in 2020 at "JPMA. The Journal of the Pakistan Medical Association"
DOI: 10.5455/jpma.11601
Abstract: This study aims to observe the spectrum of Prenatal Diagnosis of Rare Genetic conditions at a Tertiary care hospital in Karachi. This is a retrospective review conducted at the Aga Khan University Hospital, Karachi from… read more here.
Keywords: diagnosis rare; prenatal diagnosis; hospital karachi; genetic conditions ... See more keywords