نتایج جستجو برای: autosomal recessive primary microcephaly
تعداد نتایج: 682552 فیلتر نتایج به سال:
PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and pr...
The impact that next-generation sequencing technology (NGS) is having on many aspects of molecular and cell biology, is becoming increasingly apparent. One of the most noticeable outcomes of the new technology in human genetics, has been the accelerated rate of identification of disease-causing genes. Especially for rare, heterogeneous disorders, such as autosomal recessive primary microcephaly...
We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features includ...
CP# 02.01.08 Familial polyposis gene testing CP# 02.01.14 Gene expression profile testing for breast cancer CP# 11.04.02 Genetic testing for autism spectrum disorders CP# 02.01.02 Genetic testing for breast and ovarian cancer CP# 02.01.07 Genetic testing for cystic fibrosis CP# 05.01.03 Genetic testing for G1691A polymorphisms Factor V Leiden CP# 04.01.02 Genetic testing for Long QT syndrome (L...
This case report presents the orthodontic evaluation and treatment planning of a patient with Dubowitz syndrome, an autosomal recessive inherited rare genetic disorder characterized by microcephaly, growth retardation, high sloping forehead, facial asymmetry, micrognathia, deep palate, blepharophimosis, sparse hair eyebrows, low ear mental retardation. The male patient, chronological age 8 year...
Abstract Background Mutations in lysyl-tRNA synthetase ( KARS1 ), an enzyme that charges tRNA with the amino acid lysine both cytoplasm and mitochondria, have been associated thus far autosomal recessive Charcot–Marie–Tooth type CMTRIB, hearing loss DFNB89, mitochondrial encephalohepatopathy (MEH) featuring neurodevelopmental disorders microcephaly, white matter changes, cardiac hepatic failure...
Background: Pontocerebellar hypoplasia is an autosomal recessive and neurodegenerative disorder divided into sixteen subtypes. type 2B (PCH2B) shows microcephaly combined with epilepsy extrapyramidal dyskinesia chorea due to different homozygous or compound heterozygous pathogenic mutations in the TSEN2 gene. Objectives: This study was aimed find mutation responsible for pontocerebellar two fam...
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