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Robuta

https://pubmed.ncbi.nlm.nih.gov/26258614/
Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal...
A recessively inherited primary photoreceptor degeneration was characterized in the Bengal cat. The disease is characterized by early onset, with histologic,...
autosomal recessiveretinal degenerationcharacterizationearlyonset
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 dominantpathogenic variantatrophyassociated
https://pubmed.ncbi.nlm.nih.gov/15077201/
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in...
Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) because of partial or complete skipping of...
ehlers danlos syndromeautosomal recessiverarecardiacvalvular
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 dominantmutationcauseshumancombined
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 dominantkidney diseasequizzesnephronophthisismerck
https://pubmed.ncbi.nlm.nih.gov/32603902/
A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic...
Complete STAT1 deficiency is a devastating disorder characterized by severe viral infections and ensuing hyperinflammatory responses. Early diagnosis can be...
autosomal recessivenovelcompletelofvariant
https://ojp.gov/ncjrs/virtual-library/abstracts/forensic-typing-autosomal-snps-29-snp-multiplex-results
Forensic Typing of Autosomal SNPs with a 29 SNP-Multiplex--Results of a Collaborative EDNAP...
forensictypingautosomalsnpsmultiplex
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 dominantnovelmutationassociatedhemochromatosis
https://pubmed.ncbi.nlm.nih.gov/28065471/
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
autosomal recessivecutis laxamutationscause
https://pubmed.ncbi.nlm.nih.gov/26873851/
DJ-1/PARK7, But Not Its L166P Mutant Linked to Autosomal Recessive Parkinsonism, Modulates the...
Although mutations of DJ-1 have been linked to autosomal recessive Parkinsonism for years, its physiological function and the pathological mechanism of its...
djmutantlinked
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 syndromeautosomal dominantsemantic scholartype
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 analysismental retardationclinicalchild
https://pubmed.ncbi.nlm.nih.gov/16033917/
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus
The P621T mutation of COL11A2 affects the Y position of the canonical -Gly-X-Y- repeat in collagens. It lies near the amino-terminus of the triple helical...
autosomal recessivehearing lossmutationcausesnon
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 dominantceroid lipofuscinosisneuronalclinicalfeatures
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 variationidentificationnovelcausing
https://pubmed.ncbi.nlm.nih.gov/17244376/
Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective...
Dilated cardiomyopathy as seen in children is clinically and genetically heterogeneous, with an increasing proportion of cases known to be caused by disorders...
autosomal recessivecardiacfeaturesnoveldilated
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...
concentrationnonmyocyteproteinsarterial
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 diseaseautosomal dominantdiagnosisnhs
https://www.wikidata.org/wiki/Q46059431
Conservation of autosomal gene synteny groups in mouse and man. - Wikidata
autosomal geneconservationsyntenygroupsmouse
https://pubmed.ncbi.nlm.nih.gov/22173095/
Reduced protein stability of human DJ-1/PARK7 L166P, linked to autosomal recessive Parkinson...
Parkinson's disease (PD) is characterized by dopaminergic dysfunction and degeneration. DJ-1/PARK7 mutations have been linked with a familial form of early...
protein stabilityreducedhumandjlinked
https://www.broadinstitute.org/publications/broad626706
Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents. | Broad...
autosomal dominanthearing losstreatmentvivodelivery