autosomal dominant - Robuta Search

https://pubmed.ncbi.nlm.nih.gov/41543775/

Autosomal dominant pigmented paravenous retinochoroidal atrophy associated with pathogenic variant...

Autosomal dominant pigmented paravenous retinochoroidal atrophy associated with pathogenic variant in HK1 gene

autosomal dominant pathogenic variant atrophy associated

https://pubmed.ncbi.nlm.nih.gov/36662884/

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

Interferon regulatory factor 4 (IRF4) is a transcription factor (TF) and key regulator of immune cell development and function. We report a recurrent...

autosomal dominant mutation causes human combined

https://www.merckmanuals.com/en-ca/professional/multimedia/quiz/nephronophthisis-and-autosomal-dominant-tubulointerstitial-kidney-disease-adtkd

Quizzes: Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)-Merck...

autosomal dominant kidney disease quizzes nephronophthisis merck

https://pubmed.ncbi.nlm.nih.gov/12091366/

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an...

autosomal dominant novel mutation associated hemochromatosis

https://www.semanticscholar.org/topic/Ehlers-Danlos-Syndrome%2C-Autosomal-Dominant%2C-Type/5862136

Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified | Semantic Scholar

ehlers danlos syndrome autosomal dominant semantic scholar type

https://pubmed.ncbi.nlm.nih.gov/35598272/

[Clinical and genetic analysis of a child with mental retardation autosomal dominant 7]

The exon11: c.1920_c.1927delCCTCTACC (p.Ser641Rfs*31) mutation in DYRK1A gene was the genetic etiology of the case, which enriches the pathogenic gene spectrum...

genetic analysis mental retardation clinical child

https://pubmed.ncbi.nlm.nih.gov/32783189/

Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis

The neuronal ceroid lipofuscinoses (NCLs) are at least 13 distinct progressive neurodegenerative disorders unified by the accumulation of lysosomal...

autosomal dominant ceroid lipofuscinosis neuronal clinical features

https://pubmed.ncbi.nlm.nih.gov/33859130/

Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic...

Based on the theory of genotype-phenotype correlation with EYA4 mutations in terms of hearing loss and comorbid dilated cardiomyopathy, the region of amino...

copy number variation identification novel causing

https://www.sigmaaldrich.com/US/en/tech-docs/paper/1608652

Concentration of non-myocyte proteins in arterial media of cerebral autosomal dominant arteriopathy...

Concentration of non-myocyte proteins in arterial media of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. by Soo...

concentration non myocyte proteins arterial

https://www.nhs.uk/conditions/autosomal-dominant-polycystic-kidney-disease-adpkd/diagnosis/

Autosomal dominant polycystic kidney disease - Diagnosis - NHS

Find out how autosomal dominant polycystic kidney disease (ADPKD) is diagnosed. Urine tests and specialised blood tests are used, plus an ultrasound scan, CT...

polycystic kidney disease autosomal dominant diagnosis nhs

https://www.broadinstitute.org/publications/broad626706

Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents. | Broad...

autosomal dominant hearing loss treatment vivo delivery