Yazar "Gümüş, Evren" için listeleme
-
The Association BetweenBMP-2,UQCC1andCX3CR1Polymorphisms and the Risk of Developmental Dysplasia of the Hip
Gümüş, Evren; Temiz, Ebru; Sarıkaya, Baran; Yüksekdağ, Özgür; Sipahioğlu, Serkan; Gönel, Ataman (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, ... -
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
Rasheed, A.; Gümüş, Evren; Zaki, M.; Johnson, K.; Manzoor, H.; Laforce, G.; Schaffer, A. (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 and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey
Gümüş, Evren; Tuncez, Ebru; Öz, Özlem; Güvenç, Merve Saka (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 ... -
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
Wang, Jiyong; Foroutan, Aidin; Richardson, Ellen; Skinner, Steven A.; Reilly, Jack; Gümüş, Evren (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 ... -
An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model
Ahn, Lucie Y.; Coatti, Giuliana C.; Liu, Jingyi; Gümüş, Evren; Schaffer, Ashleigh E.; Miranda, Helen C. (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 ... -
A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey
İlhan, Özkan; Gümüş, Evren; Hakn, Nilay; İştar, Hande; Harmandar, Buğra; Olgun, Haşim (GEORG THIEME VERLAG KG, 2021)Townes-Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive ... -
A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay
Gümüş, Evren (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
Gümüş, Evren (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 ... -
Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders
Gümüşlü, Esen; Gümüş, Evren; Öz, Özlem; Özkan, Melis; Karaer, Kadri; Ekici, Arif; Yıldız, Edibe Pembegül; Aydınlı, Nur; Reis, Andre (SPRINGERNATURE, 2022)Neurodevelopmental disorders... -
The Link between miR-96 Levels and the Developmental Dysplasia of the Hip
Gümüş, Evren (GAZI UNIV, 2022)Background: Developmental dysplasia of the hip (DDH) is a sophisticated skeletal disease ranging from subluxation to entire dislocation of the hip as a result of missing growth of the acetabulum and femur. DDH clearly has ... -
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options
Gümüş, Evren; Wang, Ying; Hekimi, Siegfried (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 ... -
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
Dinçer, Tuba; Gümüş, Evren; Toraman, Bayram; İdris, Er; Yıldız, Gökhan; Yüksel, Zafer; Kalay, Ersan (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 ... -
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
Gümüş, Evren; Lima, Ariadne R.; Ferreira, Barbara M. (Wiley, 2022)Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different ... -
Response to Letter to the Editor: "Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet-Biedl syndrome"
Gümüş, Evren; Tuncez, Ebru; Öz, Özlem; Saka Güvenç, Merve (Wiley, 2021)Response to Letter to the Editor -
Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration
LaForce, Geneva R.; Farr, Jordan S.; Gümüş, Evren (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 ...
