Pages that link to "Q28181736"

The following pages link to An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome (Q28181736):

Displaying 50 items.

• Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies (Q22003761) (← links)
• Cloning and chromosomal localization of the human BARX2 homeobox protein gene (Q22254270) (← links)
• Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) (Q24311237) (← links)
• Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family (Q24311501) (← links)
• Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) (Q24313229) (← links)
• Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations (Q24313346) (← links)
• SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development (Q24314232) (← links)
• Epistatic relationship between Waardenburg Syndrome genes MITF and PAX3 (Q24317196) (← links)
• Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties (Q24318806) (← links)
• The Genomic Organization and the Full Coding Region of the Human PAX7 Gene (Q24319384) (← links)
• Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I) (Q24322489) (← links)
• PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida (Q24517914) (← links)
• Waardenburg syndrome (Q24517935) (← links)
• Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. (Q24537423) (← links)
• The highly conserved beta-hairpin of the paired DNA-binding domain is required for assembly of Pax-Ets ternary complexes (Q24554523) (← links)
• Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13 (Q24563350) (← links)
• Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes (Q24604768) (← links)
• Osteoimmunology: interactions of the bone and immune system (Q24655113) (← links)
• Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium (Q24670212) (← links)
• Homozygosity for Waardenburg syndrome (Q24671807) (← links)
• Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families (Q24672431) (← links)
• Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3 (Q24675154) (← links)
• Expression of Pax5 gene in human haematopoietic cells and tissues: comparison with immunodeficient donors (Q24681964) (← links)
• The gene encoding the T-box factor Tbx2 is a target for the microphthalmia-associated transcription factor in melanocytes (Q28142253) (← links)
• Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene (Q28181428) (← links)
• Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome (Q28200657) (← links)
• Assignment of the genes encoding human interleukin-8 receptor types 1 and 2 and an interleukin-8 receptor pseudogene to chromosome 2q35 (Q28201871) (← links)
• Regulation of Pax3 transcriptional activity by SUMO-1-modified PML (Q28204429) (← links)
• The human PAX6 gene is mutated in two patients with aniridia (Q28207886) (← links)
• Getting your Pax straight: Pax proteins in development and disease (Q28212326) (← links)
• Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome (Q28237330) (← links)
• PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects (Q28240060) (← links)
• Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9 (Q28242005) (← links)
• SOX10 mutations in patients with Waardenburg-Hirschsprung disease (Q28261561) (← links)
• A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene (Q28263330) (← links)
• Mapping of the human homologs of the murine paired-box-containing genes (Q28265998) (← links)
• Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group (Q28273395) (← links)
• Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues (Q28288452) (← links)
• Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome (Q28298470) (← links)
• Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors (Q28300775) (← links)
• A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy (Q28590547) (← links)
• Transcription factors in inner ear development (Q30530926) (← links)
• Advances in hereditary deafness (Q30665416) (← links)
• Waardenburg syndrome and myelomeningocele in a family (Q33594911) (← links)
• The role of mouse mutants in the identification of human hereditary hearing loss genes (Q33631106) (← links)
• Genes involved in deafness (Q33665891) (← links)
• A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome (Q33675525) (← links)
• Absence of linkage between familial neural tube defects and PAX3 gene (Q33676068) (← links)
• Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease (Q33676431) (← links)
• Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. (Q33677092) (← links)