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Search Results to Regie Lyn P. Santos-Cortez

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Santos-Cortez, Regie Lyn

One or more keywords matched the following items that are connected to Santos-Cortez, Regie Lyn

Item Type	Name
Concept	Mutation
Concept	Mutation, Missense
Concept	INDEL Mutation
Concept	Frameshift Mutation
Academic Article	Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
Academic Article	Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.
Academic Article	Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
Academic Article	Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Academic Article	Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Academic Article	Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
Academic Article	Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.
Academic Article	LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
Academic Article	Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
Academic Article	A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.
Academic Article	Mutation of ATF6 causes autosomal recessive achromatopsia.
Academic Article	COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Academic Article	Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Academic Article	Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
Academic Article	FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
Academic Article	A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
Academic Article	MAT2A mutations predispose individuals to thoracic aortic aneurysms.
Academic Article	TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Academic Article	Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Academic Article	Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Academic Article	Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.
Academic Article	Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Academic Article	Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
Academic Article	Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
Academic Article	Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.
Academic Article	Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Academic Article	Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
Academic Article	A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.
Academic Article	Identification of ASAH1 as a susceptibility gene for familial keloids.
Academic Article	A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.
Academic Article	A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.
Academic Article	Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.
Academic Article	Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Academic Article	Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
Academic Article	Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Academic Article	The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.
Academic Article	Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Academic Article	Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Academic Article	Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Academic Article	MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Academic Article	De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Academic Article	Multi-omic studies on missense PLG variants in families with otitis media.
Academic Article	The role of CDHR3 in susceptibility to otitis media.
Academic Article	ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.

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