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Fish Studies In 45 Patients With Rubinstein-Taybi Syndrome: Deletions Associated With Polysplenia, Hypoplastic Left Heart And Death In Infancy
(Nature Publishing Group, 1999)
Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and short stature. Previous reports indicated that 4-25% of RTS patients have a submicroscopic ...
Familial Mediterranean Fever In The 'Chuetas' Of Mallorca: A Question Of Jewish Origin Or Genetic Heterogeneity
(Nature Publishing Group, 2000)
Familial Mediterranean fever (FMF) is a hereditary disease commonly found among Jews, Armenians, Turks and Arabs. Recently, FMF was found in the 'Chuetas', a unique community on the island of Mallorca (Spain). To address ...
Artemis, A Novel Dna Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated In Human Severe Combined Immune Deficiency
(Cell Press, 2001)
The V(D)J recombination process insures the somatic diversification of immunoglobulin and antigen T cell receptor encoding genes. This reaction is initiated by a DNA double-strand break (dsb), which is resolved by the ...
Crucial Role Of Posttranslational Modifications Of Integrin Alpha 3 In Interstitial Lung Disease And Nephrotic Syndrome
(Oxford Univ Press, 2015)
Interstitial lung disease, nephrotic syndrome and junctional epidermolysis bullosa is an autosomal recessive multiorgan disorder caused by mutations in the gene for the integrin alpha 3 subunit (ITGA3). The full spectrum ...
Giant Axonal Neuropathy Locus Refinement To A < 590 Kb Critical Interval
(Nature Publishing Group, 2000)
Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder, characterised clinically by the development of chronic distal polyneuropathy during childhood, mental retardation, kinky or curly hair, ...
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 ...
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, ...
Impaired Amino Acid Transport At The Blood Brain Barrier Is A Cause Of Autism Spectrum Disorder
(Cell Press, 2016)
Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a ...
Lipoxygenase-3 (Aloxe3) and 12(R)-Lipoxygenase (Alox12B) Are Mutated in Non-Bullous Congenital Ichthyosiform Erythroderma (Ncie) Linked to Chromosome 17P13.1
(Oxford Univ Press, 2002)
We report the identification of mutations in lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) genes in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17. Linkage disequilibrium analysis ...