Ara
Toplam kayıt 165, listelenen: 61-70
Identification Of A Founder Mutation In Tpm3 In Nemaline Myopathy Patients Of Turkish Origin
(Nature Publishing Group, 2008)
To date, six genes are known to cause nemaline (rod) myopathy (NM), a rare congenital neuromuscular disorder. In an attempt to find a seventh gene, we performed linkage and subsequent sequence analyses in 12 Turkish families ...
Kif7 Mutations Cause Fetal Hydrolethalus and Acrocallosal Syndromes
(Nature Publishing Group, 2011)
KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation ...
Risk Assessment and Communication Tools For Genotype Associations With Multifactorial Phenotypes: The Concept of "Edge Effect" And Cultivating an Ethical Bridge Between Omics Innovations and Society
(Mary Ann Liebert, Inc, 2009)
Applications of omics technologies in the postgenomics era swiftly expanded from rare monogenic disorders to multifactorial common complex diseases, pharmacogenomics, and personalized medicine. Already, there are signposts ...
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder
(Cell Press, 2003)
Genome scans of bipolar disorder (BPD) have not produced consistent evidence for linkage. The rank-based genome scan meta-analysis (GSMA) method was applied to 18 BPD genome scan data sets in an effort to identify regions ...
Homozygous Indel Mutation In Cdh11 As The Probable Cause Of Elsahy-Waters Syndrome
(Wiley, 2017)
Two sisters from a consanguineous couple were seen in genetics department for facial dysmorphic features and glaucoma. They both had broad foreheads, hypertelorism, megalocorneas, thick eyebrows with synophrys, flat malar ...
Mesoaxial Complete Syndactyly And Synostosis With Hypoplastic Thumbs: An Unusual Combination Or Homozygous Expression Of Syndactyly Type I?
(British Med Journal Publ Group, 1998)
Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe ...
Crim1 Haploinsufficiency Causes Defects In Eye Development In Human And Mouse
(Oxford Univ Press, 2015)
Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is characterized by microcornea with ...
European Registration Process For Clinical Laboratory Geneticists In Genetic Healthcare
(Nature Publishing Group, 2017)
Tremendous progress in genetics and genomics led to a wide range of healthcare providers, genetic tests, and more patients who can benefit from these developments. To guarantee and improve the quality of genetic testing, ...
Dach: Genomic Characterization, Evaluation As A Candidate For Postaxial Polydactyly Type A2, And Developmental Expression Pattern Of The Mouse Homologue
(Academic Press Inc, 2001)
The gene DACH is a human homologue of Drosophila melanogaster dachshund (dac), which encodes a nuclear factor essential for determining cell fates in the eye, leg, and nervous system of the fly. To investigate possible ...
Expanding The Phenotypic Spectrum Of Ecel1-Related Congenital Contracture Syndromes
(Wiley, 2014)
Using a combination of homozygosity mapping and whole-exome sequencing (WES), we identified a novel missense c.1819G>A mutation (G607S) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree ...