Works by Gursoy, Semra

Results: 35

A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene.

Published in:

Medical Bulletin of Sisli Etfal Hospital, 2022, v. 56, n. 1, p. 161, doi. 10.14744/SEMB.2021.88964

By:

Al, Isik Odaman;
Oymak, Yesim;
Hazan, Filiz;
Gursoy, Semra;
Ozturk, Tulay;
Bag, Ozlem;
Gozmen, Salih;
Karakaya, Nurgul;
Karapinar, Tuba Hilkay

Publication type:

Article

Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1.

Published in:

Medical Bulletin of Sisli Etfal Hospital, 2022, v. 56, n. 2, p. 291, doi. 10.14744/SEMB.2021.28044

By:

Koprulu, Ozge;
Ozkan, Behzat;
Acar, Sezer;
Nalbantoglu, Ozlem;
Donmez, Beyhan Ozkaya;
Arslan, Gulcin;
Hazan, Filiz;
Gursoy, Semra

Publication type:

Article

Galaktozemi tanılı olgularımızın klinik ve genetik değerlendirilmesi.

Published in:

Türk Pediatri Arşivi, 2016, v. 51, n. 4, p. 204, doi. 10.5152/TurkPediatriArs.2016.3759

By:

Atik, Sezen Ugan;
Gürsoy, Semra;
Koçkar, Tuba;
Önal, Hasan;
Adal, Servet Erdal

Publication type:

Article

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome.

Published in:

2018

By:

Urreizti, Roser;
Gürsoy, Semra;
Castilla‐Vallmanya, Laura;
Cunill, Guillem;
Rabionet, Raquel;
Erçal, Derya;
Grinberg, Daniel;
Balcells, Susana

Publication type:

Case Study

Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant.

Published in:

Gynecological Endocrinology, 2021, v. 37, n. 5, p. 476, doi. 10.1080/09513590.2021.1908253

By:

Acar, Sezer;
Nalbantoğlu, Özlem;
Gürsoy, Semra;
Özkaya, Beyhan;
Köprülü, Özge;
Arslan, Gülçin;
Hazan, Filiz;
Özkan, Behzat

Publication type:

Article

Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study.

Published in:

2020

By:

Gürsoy, Semra;
Hazan, Filiz;
Kaderli, Bülent;
Meşe, Timur;
Tükün, Ajlan

Publication type:

journal article

De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 69, doi. 10.1093/hmg/ddab224

By:

Sakamoto, Masamune;
Sasaki, Kazunori;
Sugie, Atsushi;
Nitta, Yohei;
Kimura, Tetsuaki;
Gürsoy, Semra;
Cinleti, Tayfun;
Iai, Mizue;
Sengoku, Toru;
Ogata, Kazuhiro;
Suzuki, Atsushi;
Okamoto, Nobuhiko;
Iwama, Kazuhiro;
Tsuchida, Naomi;
Uchiyama, Yuri;
Koshimizu, Eriko;
Fujita, Atsushi;
Hamanaka, Kohei;
Miyatake, Satoko;
Mizuguchi, Takeshi

Publication type:

Article

Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study.

Published in:

Journal of Pediatric Research, 2021, v. 8, n. 3, p. 297, doi. 10.4274/jpr.galenos.2021.10179

By:

Gürsoy, Semra;
Hazan, Filiz;
Zihni, Cüneyt;
Acar, Sezer;
Yılmazer, Murat Muhtar;
Meşe, Timur;
Özkan, Behzat

Publication type:

Article

Turner Syndrome and Its Variants.

Published in:

Journal of Pediatric Research, 2017, v. 4, n. 4, p. 171, doi. 10.4274/jpr.35744

By:

Gürsoy, Semra;
Erçal, Derya

Publication type:

Article

A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.938814

By:

Kırkgöz, Tarık;
Özkan, Behzat;
Hazan, Filiz;
Acar, Sezer;
Nalbantoğlu, Özlem;
Özkaya, Beyhan;
Kulalı, Melike Ataseven;
Gürsoy, Semra;
Ikegawa, Shiro;
Guo, Long

Publication type:

Article

A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue.

Published in:

Turkish Journal of Pediatrics, 2020, v. 62, n. 5, p. 826, doi. 10.24953/turkjped.2020.05.015

By:

Acar, Sezer;
Erbaş, İbrahim Mert;
Paketçi, Ahu;
Onay, Hüseyin;
Çankaya, Tufan;
Gürsoy, Semra;
Özhan, Bayram;
Abacı, Ayhan;
Özer, Erdener;
Olguner, Mustafa;
Böber, Ece;
Demir, Korcan

Publication type:

Article

The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome.

Published in:

Turkish Journal of Pediatrics, 2019, v. 61, n. 4, p. 589, doi. 10.24953/turkjped.2019.04.017

By:

Gürsoy, Semra;
Kutbay, Yaşar Bekir;
Özdemir, Taha Reşid;
Hazan, Filiz

Publication type:

Article

Expanding spectrum of SCN1A-related phenotype with novel mutations.

Published in:

Turkish Journal of Pediatrics, 2017, v. 59, n. 5, p. 570, doi. 10.24953/turkjped.2017.05.010

By:

Hız-Kurul, Semra;
Gürsoy, Semra;
Ayanoğlu, Müge;
Yiş, Uluç;
Erçal, Derya

Publication type:

Article

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 1, p. 1, doi. 10.1007/s00431-024-05825-8

By:

Yılmaz Uzman, Ceren;
Gürsoy, Semra;
Özkan, Behzat;
Vuran, Gamze;
Ayyıldız Emecen, Durdugül;
Köprülü, Özge;
Bilen, Mertkan Mustafa;
Hazan, Filiz

Publication type:

Article

Brucellosis impairs endothelial functions in chronic symptomatic patients without overt cardiac involvement.

Published in:

Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2015, v. 43, n. 3, p. 242, doi. 10.5543/tkda.2015.72025

By:

Gürsoy, Mustafa Ozan;
Tursun, İrfan;
Alpua, Mehmet;
Solay, Aslı Haykır;
Çobanlı, Müge Tokat;
Demirtaş, Hale;
Ercan, Gülten;
Gürsoy, Semra;
Kalçık, Macit;
Karakoyun, Süleyman;
Özkan, Mehmet

Publication type:

Article

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 4, p. 358, doi. 10.4274/jcrpe.galenos.2020.2019.0001

By:

Gürsoy, Semra;
Hazan, Filiz;
Aykut, Ayça;
Nalbantoğlu, Özlem;
Korkmaz, Hüseyin Anıl;
Demir, Korcan;
Özkan, Behzat;
Çoğulu, Özgür

Publication type:

Article

Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of- Function Mutation.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 4, p. 444, doi. 10.4274/jcrpe.galenos.2019.2018.0230

By:

Nalbantoğlu, Özlem;
Arslan, Gülçin;
Köprülü, Özge;
Hazan, Filiz;
Gürsoy, Semra;
Özkan, Behzat

Publication type:

Article

Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 6, p. 575, doi. 10.1515/jpem-2023-0551

By:

Kırkgöz, Tarık;
Gürsoy, Semra;
Acar, Sezer;
Köprülü, Özge;
Özkaya, Beyhan;
Arslan, Gülçin;
Nalbantoğlu, Özlem;
Hazan, Filiz;
Özkan, Behzat

Publication type:

Article

Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 8, p. 1041, doi. 10.1515/jpem-2022-0027

By:

Nalbantoğlu, Özlem;
Hazan, Filiz;
Acar, Sezer;
Gürsoy, Semra;
Özkan, Behzat

Publication type:

Article

Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.

Published in:

Cytogenetic & Genome Research, 2018, v. 153, n. 4, p. 175, doi. 10.1159/000486775

By:

Çakmaklı, Seda;
Çankaya, Tufan;
Gürsoy, Semra;
Koç, Altuğ;
Kırbıyık, Özgür;
Kılıçarslan, Özge A.;
Özer, Erdener;
Erçal, Derya;
Bozkaya, Özlem G.

Publication type:

Article

Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development.

Published in:

Turkish Journal of Medical Sciences, 2020, v. 50, n. 6, p. 1573, doi. 10.3906/sag-1901-170

By:

KILIÇARSLAN, Özge AKSEL;
ATAMAN, Esra;
GÜRSOY, Semra;
GÜRBÜZ, Gürkan;
ÜNALP, Aycan;
GENÇPINAR, Pınar;
DÜNDAR, Nihal OLGAÇ;
EDİZER, Selvinaz;
ÜLGENALP, Ayfer;
BOZKAYA, Özlem GİRAY

Publication type:

Article

Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.

Published in:

Turkish Journal of Medical Sciences, 2018, v. 48, n. 5, p. 911, doi. 10.3906/sag-1611-107

By:

AKSEL KILIÇARSLAN, Özge;
ATAMAN, Esra;
GÜRSOY, Semra;
HAZAN, Filiz;
RANDA, Cemre;
ÇANKAYA, Tufan;
ERÇAL, Derya;
ÜLGENALP, Ayfer;
GİRAY BOZKAYA, Özlem

Publication type:

Article

Kromozom 22q11.2 Delesyon Sendromu Tanılı Hastaların Klinik ve Laboratuvar Özellikleri.

Published in:

Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2021, v. 30, n. 2, p. 117, doi. 10.5336/pediatr.2021-81283

By:

HAZAN, Filiz;
NALBANTOĞLU, Özlem;
GÜRSOY, Semra;
ÖZEN, Selime;
YILMAZER, Murat Muhtar;
GENEL, Ferah;
MEŞE, Timur;
ÖZKAN, Behzat

Publication type:

Article

Clinical and Cytogenetic Evaluations of Patients with Turner Syndrome: Are We Aware Enough?

Published in:

Erciyes Medical Journal / Erciyes Tip Dergisi, 2017, v. 39, n. 1, p. 12, doi. 10.5152/etd.2017.15070

By:

Gürsoy, Semra;
Kılıçarslan, Özge Aksel;
Bozkaya, Özlem Giray;
Bora, Elçin;
Ünal, Nurettin;
Erçal, Derya

Publication type:

Article

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 4, p. 523, doi. 10.1177/0883073815599262

By:

Gürsoy, Semra;
Erçal, Derya

Publication type:

Article

A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall–Smith syndrome and Malan syndrome.

Published in:

International Journal of Developmental Neuroscience, 2023, v. 83, n. 5, p. 479, doi. 10.1002/jdn.10280

By:

Uzman, Ceren Yılmaz;
Gürsoy, Semra;
Hazan, Filiz

Publication type:

Article

SCOT DEFICIENCY MIMICKING SEPSIS: AN UNUSUAL CAUSE OF INCREASED ANION GAP METABOLIC ACIDOSIS.

Published in:

Journal of Basic & Clinical Health Sciences, 2024, v. 8, n. 2, p. 507, doi. 10.30621/jbachs.1217436

By:

Kisa, Pelin Teke;
Gursoy, Semra;
Seven, Pınar;
Pirinc, Neslihan;
Sandal, Ozlem Sarac;
Atakul, Gulhan;
Hazan, Filiz;
Tanyalcin, Tijen

Publication type:

Article

A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.

Published in:

Molecular Syndromology, 2025, v. 16, n. 1, p. 61, doi. 10.1159/000540325

By:

Sönmez, Beria;
Kocabey, Mehmet;
Polat, Ayşe İpek;
Gürsoy, Semra;
Karaoğlu, Pakize;
Horvath, Rita;
Schon, Katherine R.;
Ülgenalp, Ayfer;
Yiş, Uluç;
Çağlayan, Ahmet Okay;
Giray Bozkaya, Özlem

Publication type:

Article

Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation.

Published in:

Molecular Syndromology, 2021, v. 12, n. 5, p. 269, doi. 10.1159/000515697

By:

Gürsoy, Semra;
Hazan, Filiz;
Öztürk, Tülay;
Çolak, Rüya;
Çalkavur, Şebnem

Publication type:

Article

Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.

Published in:

Molecular Syndromology, 2019, v. 10, n. 6, p. 339, doi. 10.1159/000504829

By:

Gürsoy, Semra;
Hazan, Filiz;
Öztürk, Tülay;
ateş, Halil

Publication type:

Article

Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience.

Published in:

Medical Journal of Bakirkoy, 2020, v. 16, n. 1, p. 49, doi. 10.5222/BMJ.2020.91855

By:

Köse, Melis;
Köse, Engin;
Kağnıcı, Mehtap;
Ünalp, Aycan;
Yılmaz, Ünsal;
Yılmaz, Murat Muhtar;
Meşe, Timur;
Edizer, Selvinaz;
Gürsoy, Semra;
Onay, Hüseyin;
Yıldırım, Eser Sözmen

Publication type:

Article

Neonatal bacterial meningitis in Turkey: epidemiology, risk factors, and prognosis.

Published in:

Journal of Infection in Developing Countries, 2013, v. 7, n. 2, p. 73

By:

Kavuncuoğlu, Sultan;
Gürsoy, Semra;
Türel, Özden;
Yildiz Aldemir, Esin;
Hosaf, Emine

Publication type:

Article

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1549, doi. 10.3390/ijms22041549

By:

Castilla-Vallmanya, Laura;
Gürsoy, Semra;
Giray-Bozkaya, Özlem;
Prat-Planas, Aina;
Bullich, Gemma;
Matalonga, Leslie;
Centeno-Pla, Mónica;
Rabionet, Raquel;
Grinberg, Daniel;
Balcells, Susanna;
Urreizti, Roser

Publication type:

Article

Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy.

Published in:

Annals of Indian Academy of Neurology, 2020, v. 23, n. 2, p. 206, doi. 10.4103/aian.AIAN_465_19

By:

Gursoy, Semra;
Ataman, Esra;
Baysal, Bahar;
Özyılmaz, Berk;
Gençpınar, Pınar;
Hız, Ayşe;
Yiş, Uluç;
Ünalp, Aycan;
Dündar, Nihal;
Ülgenalp, Ayfer;
Erçal, Derya

Publication type:

Article

Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.

Published in:

Neurological Sciences, 2021, v. 42, n. 5, p. 2045, doi. 10.1007/s10072-020-04988-0

By:

Hazan, Filiz;
Gürsoy, Semra;
Unalp, Aycan;
Yılmaz, Unsal;
Demirağ, Bengü;
Aydin Köker, Sultan;
Ozyılmaz, Berk;
Erdogan, Kadri Murat;
Kalenderer, Önder;
Erkuş, Serkan;
Gürçınar, Müge;
Tükün, Ajlan

Publication type:

Article