Person:
YEŞİL, GÖZDE

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Kurumdan Ayrılmıştır

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Organizational Unit

Tıp Fakültesi

First Name

GÖZDE

Last Name

YEŞİL

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Now showing 1 - 10 of 21

Open Access
A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood
(2017-10-01) YILDIZ, Edibe Pembegul; YEŞİL, GÖZDE; OZKAN, Melis Ulak; BEKTAS, Gonca; CALISKAN, Mine; OZMEN, Meral; YEŞİL, GÖZDE
Open Access
Pseudohypoparathyroidism Type Ia with Normocalcemia
(2019-04-01T00:00:00Z) Kutlu, Esra; CESUR, Yaşar; ÖZGEN, İLKER TOLGA; Yesil, Gozde; KUTLU, ESRA; ÖZGEN, İLKER TOLGA; CESUR, YAŞAR; YEŞİL, GÖZDE
Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorder with parathormone target organ resistance, characterized by hypocalcemia, hyperphosphatemia and high blood parathormone (PTH). Typical phenotypic symptoms and additional hormonal resistance can be observed in type Ia, which is also known as Albright hereditary osteodystrophy. Our patient was an eight-year and nine-month old girl with typical Albright-s hereditary osteodystrophy phenotype including short stature, obesity, round face, low nasal bridge, shortened metacarpals, and mild mental retardation. In her biochemical examination, high PTH level and hypothyroidism is detected in spite of normal calcium and phosphor levels. As a result of clinic and laboratory tests, the findings were consistent with PHP type Ia with normocalcemia. In her guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 (GNAS 1) gene serial analysis, C-308T>C (p1103T) transformation was detected, which was previously reported in a PHP type Ia patient. In this report, we-ve aimed to emphasize the fact that calcium and phosphor level in the blood of the patient with PHP type Ia can be measured normal.
Open Access
Familial amyloid polyneuropathy due to p.ALA140 ser mutation
(2018-01-01) GÜRSOY, Azize; YEŞİL, GÖZDE; ERGÜN, SELMA; Tosuner, ZEYNEP; GÜRSOY, AZIZE ESRA; YEŞİL, GÖZDE; ERGÜN, SELMA; TOSUNER, ZEYNEP
Open Access
PATIENT WITH INTERMITTENT POSTURE ABNORMALITY: AN ALEXANDER DISEASE CASE REPORT
(2019-06-01T00:00:00Z) İÇAĞASIOĞLU, Dilara Füsun; İŞCAN, AKIN; ARALAŞMAK, Ayşe; NURSOY, HATİCE; YEŞİL, Gözde; AYDIN, NİHAL; Sahin, Seyma Sonmez; İÇAĞASIOĞLU, DİLARA FÜSUN; İŞCAN, AKIN; ARALAŞMAK, AYŞE; NURSOY, HATİCE; YEŞİL, GÖZDE; AYDIN, NİHAL
Open Access
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease
(2019-08-01) Jolly, Angad; Bayram, Yavuz; Turan, Serap; Aycan, Zehra; Tos, Tulay; Abali, Zehra Yavas; Hacihamdioglu, Bulent; Akdemir, Zeynep Hande Coban; Hijazi, Hadia; Bas, Serpil; Atay, Zeynep; ABALI, Saygın; Guran, Tulay; Bas, Firdevs; Darendeliler, Feyza; Colombo, Roberto; Barakat, Tahsin Stefan; Rinne, Tuula; White, Janson J.; YEŞİL, GÖZDE; Gezdirici, Alper; Gulec, Elif Yilmaz; Karaca, Ender; Pehlivan, Davut; Jhangiani, Shalini N.; Muzny, Donna M.; Poyrazoglu, Sukran; Bereket, Abdullah; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R.; YEŞİL, GÖZDE
Context: Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to 90% of individuals with hyper-gonadotropic hypogonadism presenting as POI, the molecular etiology is unknown. Common etiologies include chromosomal abnormalities, environmental factors, and congenital disorders affecting ovarian development and function, as well as syndromic and nonsyndromic single gene disorders suggesting POI represents a complex trait.
Open Access
Familial Atypical Hemolytic Uremic Syndrome with Positive p.S1191L (c.3572C>T) Mutation on the CFH Gene: A Single-center Experience
(2021-06-01T00:00:00Z) Dursun, Ersoy F.; Yesil, G.; Sasak, G.; Dursin, H.; YEŞİL, GÖZDE
The atypical hemolytic uremic syndrome (aHUS) is characterized by thrombocytopenia, microangiopathic hemolytic anemia and acute kidney injury (AKI), which can exhibit a poor prognosis. Complement factor H (CFH) gene mutations play a key role in this disease, which may be sporadic or familial. We studied 13 people from the same family, investigated for gene mutations of the familial aHUS after a family member presented to our emergency clinic with the aHUS and reported a family history of chronic renal failure. The p.S1191L mutation on the CFH gene was heterozygous in six people from the patient-s family with the aHUS. One of these family members is our patient with acute kidney injury, and the other two are followed at the Nephrology Clinic, Medeniyat University, Goztepe Training and Research Hospital, Istanbul, Turkey, due to chronic renal failure. The other three family members showed no evidence of renal failure. The index case had a history of six sibling deaths; three died of chronic renal failure. Plasmapheresis and fresh frozen plasma treatment were administered to our patient. When the patient showed no response to this treatment, eculizumab (ECZ) therapy was started. The study demonstrated that thorough family history should be taken in patients with the aHUS. These patients may have the familial type of the disease, and they should be screened genetically. Eculizumab should be the first choice in the treatment with plasmapheresis. It should be kept in mind that the use of ECZ as prophylaxis in posttransplant therapy is extremely important for preventing rejection.
Open Access
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
(2017-01-01) Stray-Pedersen, Asbjorg; Sorte, Hanne Sormo; Samarakoon, Pubudu; Gambin, Tomasz; Chinn, Ivan K.; Akdemir, Zeynep H. Coban; Erichsen, Hans Christian; Forbes, Lisa R.; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N.; Muzny, Donna M.; Rodningen, Olaug Kristin; Sheng, Ying; Nicholas, Sarah K.; Noroski, Lenora M.; Seeborg, Filiz O.; Davis, Carla M.; Canter, Debra L.; Mace, Emily M.; Vece, Timothy J.; Allen, Carl E.; Abhyankar, Harshal A.; Boone, Philip M.; Beck, Christine R.; Wiszniewski, Wojciech; Fevang, Borre; Aukrust, Pal; Tjonnfjord, Geir E.; Gedde-Dahl, Tobias; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordoy, Ingvild; Jorgensen, Silje F.; Abrahamsen, Tore G.; Overland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T. N.; Kulseth, Mari Ann; Prescott, Trine E.; Rustad, Cecilie F.; Heimdal, Ketil R.; Belmont, John W.; Rider, Nicholas L.; Chinen, Javier; Cao, Tram N.; Smith, Eric A.; Soledad Caldirola, Maria; Bezrodnik, Liliana; Lugo Reyes, Saul Oswaldo; Espinosa Rosales, Francisco J.; Guerrero-Cursaru, Nina Denisse; Pedroza, Luis Alberto; Poli, Cecilia M.; Franco, Jose L.; Trujillo Vargas, Claudia M.; Aldave Becerra, Juan Carlos; Wright, Nicola; Issekutz, Thomas B.; Issekutz, Andrew C.; Abbott, Jordan; Caldwell, Jason W.; Bayer, Diana K.; Chan, Alice Y.; Aiuti, Alessandro; Cancrini, Caterina; Holmberg, Eva; West, Christina; Burstedt, Magnus; Karaca, Ender; Yesil, GÖZDE; Artac, Hasibe; Bayram, Yavuz; Atik, Mehmed Musa; Eldomery, Mohammad K.; Ehlayel, Mohammad S.; Jolles, Stephen; Flato, Berit; Bertuch, Alison A.; Hanson, I. Celine; Zhang, Victor W.; Wong, Lee-Jun; Hu, Jianhong; Walkiewicz, Magdalena; Yang, Yaping; Eng, Christine M.; Boerwinkle, Eric; Gibbs, Richard A.; Shearer, William T.; Lyle, Robert; Orange, Jordan S.; Lupski, James R.; YEŞİL, GÖZDE
Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. Objective: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.
Open Access
Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1
(2018-01-01) Gunes, Nilay; YEŞİL, GÖZDE; Beng, Kubilay; Kahraman, Sinan; Tuysuz, Beyhan; YEŞİL, GÖZDE
Dysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple enchondromas in metaphyseal and diaphyseal parts of the long tubular bones, and progressive kyphoscoliosis. Although the COL2A1 gene mutation was found to be responsible for DSC, a case of DSC with no pathogenic mutation in the COL2A1 gene has also been reported, suggesting that the condition is genetically heterogeneous. Here, we report 2 novel heterozygous mutations in COL2A1 in 2 patients with DSC. They had prenatal onset short stature with unequal limb length and generalized enchondroma-like lesions in metaphyseal and diaphyseal parts of the long tubular bones, and osteopenia. The first patient was diagnosed at 3 months of age and followed for 10.5 years. Severe lumbosacral scoliosis and recurrent fractures were observed. The second patient was diagnosed at the age of 4 years. Mild deterioration in scoliosis was observed during the 3-year-long follow-up period. However, skeletal radiography of both patients showed the improvement of enchondromatous lesions. In conclusion, we verified that the COL2A1 gene mutations are responsible for the DSC phenotype. We observed severe osteopenia and fractures which were not reported previously
Open Access
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
(2016-03-03) Harel, Tamar; YEŞİL, GÖZDE; Bayram, Yavuz; Coban-Akdemir, Zeynep; Charng, Wu-Lin; Karaca, Ender; Al Asmari, Ali; Eldomery, Mohammad K.; Hunter, Jill V.; Jhangiani, Shalini N.; Rosenfeld, Jill A.; Pehlivan, Davut; El-Hattab, Ayman W.; Saleh, Mohammed A.; Leduc, Charles A.; Muzny, Donna; Boerwinkle, Eric; Gibbs, Richard A.; Chung, Wendy K.; Yang, Yaping; Belmont, John W.; Lupski, James R.; YEŞİL, GÖZDE
The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations can often be traced to different mutation types, localization of the variants in distinct protein domains, or the trigger of or escape from nonsense-mediated decay. Using whole-exome sequencing, we identified homozygous variants in EMC1 that segregated with a phenotype of developmental delay, hypotonia, scoliosis, and cerebellar atrophy in three families. In addition, a de novo heterozygous EMC1 variant was seen in an individual with a similar clinical and MRI imaging phenotype. EMC1 encodes a member of the endoplasmic reticulum (ER)-membrane protein complex (EMC), an evolutionarily conserved complex that has been proposed to have multiple roles in ER-associated degradation, ER-mitochondria tethering, and proper assembly of multi-pass transmembrane proteins. Perturbations of protein folding and organelle crosstalk have been implicated in neurodegenerative processes including cerebellar atrophy. We propose EMC1 as a gene in which either biallelic or monoallelic variants might lead to a syndrome including intellectual disability and preferential degeneration of the cerebellum.
Open Access
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene
(2017-09-01) Eser, Metin; Ayaz, Akif; YEŞİL, GÖZDE; YEŞİL, GÖZDE
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and cognitive impairment. RSTS is primarily due to mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases) genes. A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad nasal bridge, triangular mouth and pointed chin and skeletal finding including broad great thumbs and halluces, and accessory nipple. With this paper, we reported a novel frameshift mutation which is led to premature stop codon in CREBBP gene. As a result, c.2057dupC, reported in this paper enlarges the molecular spectrum of disease-causing CREBBP gene.