Ara
Toplam kayıt 12, listelenen: 1-10
The Association BetweenBMP-2,UQCC1andCX3CR1Polymorphisms and the Risk of Developmental Dysplasia of the Hip
(Springer Heidelberg, 2020)
Objective Developmental dysplasia of the hip (DDH) is a complicated skeletal disease ranging from subluxation to complete dislocation of the hip as a result of insufficient development of the acetabulum and femur. To date, ...
A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay
(Royan Inst, 2020)
Intellectual disability (ID) is defined as an intelligence quotient (IQ) level below than 70. In the present paper, a 1.16 megabases (Mb) homozygous deletion in the 8p22 region was identified in a three years old girl with ...
A Homozygous 1.16 Megabases Microdeletion at 8p22 including the Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay
(Royan Institute (ACECR), 2020)
Intellectual disability (ID) is defined as an intelligence quotient (IQ) level below than 70. In the present paper, a 1.16 megabases (Mb) homozygous deletion in the 8p22 region was identified in a three years old girl with ...
An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model
(Wiley, 2020;00:1–)
ACTL6B is a component of the neuronal BRG1/brm-associated factor (nBAF) complex, which is required for chromatin remodeling in postmitotic neurons. We recently reported biallelic pathogenic variants in ACTL6B in patients ...
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey
(Wiley, 2020)
Background Bardet-Biedl syndrome (BBS) is a very-rare autosomal recessive genetic disorder with severe multisystem manifestations. Genetic testing plays an important role in the early diagnosis of the disease. In this ...
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
(Wiley, 2021)
Bartsocas-Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most ...
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
(BMJ Publishing Group, 2020)
Background: Intellectual disability syndromes (IDSs) with or without developmental delays affect up to 3% of the world population. We sought to clinically and genetically characterise a novel IDS segregating in five unrelated ...
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
(SPRINGERNATURE, 2022)
ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases ...
Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration
(Cell Press, 2022)
Tight regulation of mRNA isoform expression is essential for neuronal development, maintenance, and function; however, the repertoire of proteins that govern isoform composition and abundance remains incomplete. Here, we ...
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options
(ELSEVIER, 2022)
Coenzyme Q10 (CoQ10) is necessary as electron transporter in mitochondrial respiration and other cellular functions. CoQ10 is synthesized by all cells and defects in the synthesis pathway result in primary CoQ10 deficiency ...