Pages that link to "Q24314157"

The following pages link to Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract (Q24314157):

Displaying 50 items.

• Homeobox D13 (Q21118404) (← links)
• Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired (Q22003954) (← links)
• Involvement of the HLXB9 homeobox gene in Currarino syndrome (Q24534315) (← links)
• Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome (Q24538670) (← links)
• Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families (Q24539303) (← links)
• A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly (Q24632929) (← links)
• A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome) (Q24678062) (← links)
• Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome (Q24680164) (← links)
• A simple method for generating full length cDNA from low abundance partial genomic clones (Q24795958) (← links)
• Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families (Q28117048) (← links)
• Human HOX gene mutations (Q28201271) (← links)
• Limb malformations and the human HOX genes (Q28204788) (← links)
• Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy (Q28215809) (← links)
• Hoxc13 mutant mice lack external hair (Q28504841) (← links)
• The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements (Q28506182) (← links)
• Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes (Q28540820) (← links)
• Shared Enhancer Activity in the Limbs and Phallus and Functional Divergence of a Limb-Genital cis-Regulatory Element in Snakes (Q28611433) (← links)
• Molecular origins of rapid and continuous morphological evolution (Q28770048) (← links)
• Runx family genes in a cartilaginous fish, the elephant shark (Callorhinchus milii). (Q31156994) (← links)
• Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences (Q33309749) (← links)
• Tibial agenesis, femoral duplication, and caudal midline anomalies (Q33665788) (← links)
• Deletion and point mutations of PTHLH cause brachydactyly type E. (Q33708563) (← links)
• Genetics of limb anomalies in humans (Q33739354) (← links)
• Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation (Q33882917) (← links)
• Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. (Q33905134) (← links)
• Genetic disorders of the skeleton: a developmental approach (Q33906292) (← links)
• Rdp1, a novel zinc finger protein, regulates the DNA damage response of rhp51(+) from Schizosaccharomyces pombe (Q33966721) (← links)
• Stress, genomes, and evolution (Q34022656) (← links)
• Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome (Q34088714) (← links)
• Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report (Q34122918) (← links)
• A locus for brachydactyly type A-1 maps to chromosome 2q35-q36. (Q34145418) (← links)
• Functional classification and mutation analysis of a synpolydactyly kindred (Q34292434) (← links)
• Cloning and comparative analysis of the bovine, porcine, and equine sex chromosome genes ZFX and ZFY. (Q34310689) (← links)
• Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. (Q34389772) (← links)
• Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion (Q34390891) (← links)
• The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures (Q34428895) (← links)
• A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance (Q34975300) (← links)
• Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy. (Q35079093) (← links)
• Congenital abnormalities of body patterning: embryology revisited (Q35207874) (← links)
• The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence (Q35550046) (← links)
• The epidemiology, genetics and future management of syndactyly (Q35841312) (← links)
• Drosophila, the golden bug, emerges as a tool for human genetics (Q35998774) (← links)
• Breakpoints around the HOXD cluster result in various limb malformations. (Q36930275) (← links)
• Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis (Q37036052) (← links)
• Molecular basis for skeletal variation: insights from developmental genetic studies in mice (Q37044705) (← links)
• Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import (Q37065946) (← links)
• The gene regulatory logic of transcription factor evolution (Q37172305) (← links)
• FOXL2 mutations and genomic rearrangements in BPES. (Q37252063) (← links)
• Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly (Q37351799) (← links)
• Folate modulates Hox gene-controlled skeletal phenotypes. (Q37609461) (← links)