Yazar "Gümüş, Evren" için Scopus İndeksli Yayınlar Koleksiyonu listeleme
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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 ... -
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 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 ... -
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 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