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Toplam kayıt 131, listelenen: 11-20
Extensive Scanning Of The Calpain-3 Gene Broadens The Spectrum Of Lgmd2A Phenotypes
(B M J Publishing Group, 2005)
Background: The limb girdle muscular dystrophies ( LGMD) are a heterogeneous group of Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified ...
Evidence From Autoimmune Thyroiditis Of Skewed X-Chromosome Inactivation In Female Predisposition To Autoimmunity
(Nature Publishing Group, 2006)
The etiologic factors in the development of autoimmune thyroid diseases (AITDs) are not fully understood. We investigated the role of skewed X-chromosome inactivation (XCI) mosaicism in female predisposition to AITDs. One ...
Heterogeneous Spectrum Of Mutations In The Fanconi Anaemia Group A Gene
(Stockton Press, 1999)
Fanconi anaemia (FA) is a genetically heterogeneous autosomal recessive disorder associated with chromosomal fragility, bone-marrow failure, congenital abnormalities and cancer. The gene for complementation group A (FAA), ...
Hereditary Index Finger Polydactyly - Phenotypic, Radiological, Dermatoglyphic, And Genetic Findings In A Large Family
(British Med Journal Publ Group, 1976)
Craniosynostosis And Multiple Skeletal Anomalies In Humans And Zebrafish Result From A Defect In The Localized Degradation Of Retinoic Acid
(Cell Press, 2011)
Excess exogenous retinoic acid (RA) has been well documented to have teratogenic effects in the limb and craniofacial skeleton. Malformations that have been observed in this context include craniosynostosis, a common ...
Evaluation Of Prenatal-Onset Osteochondrodysplasias By Ultrasonography: A Retrospective And Prospective Analysis
(Wiley-Liss, 2008)
The osteochondrodysplasia or skeletal dysplasias are a heterogenous group of over 350 distinct disorders of skeletogenesis. Many manifest in the prenatal diagnosis. A retrospective analysis evaluated 1,500 cases referred ...
Functional Analysis Of A Duplication (P.E63_D69Dup) In The Switch Ii Region Of Hras: New Aspects Of The Molecular Pathogenesis Underlying Costello Syndrome
(Oxford Univ Press, 2013)
Costello syndrome is a congenital disorder comprising a characteristic face, severe feeding difficulties, skeletal, cardiac and skin abnormalities, intellectual disability and predisposition to malignancies. It is caused ...
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 ...
Guanidinoacetate Methyltransferase (Gamt) Deficiency: Outcomes In 48 Individuals And Recommendations For Diagnosis, Treatment And Monitoring
(Academic Press Inc Elsevier Science, 2014)
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as ...
Haploinsufficiency Of A Spliceosomal Gtpase Encoded By Eftud2 Causes Mandibulofacial Dysostosis With Microcephaly
(Cell Press, 2012)
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including ...