Works matching AU Güneş, Nilay

Results: 19

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Published in:

Human Mutation, 2020, v. 41, n. 1, p. 133, doi. 10.1002/humu.23928

By:

Danyukova, Tatyana;
Ludwig, Nataniel F.;
Velho, Renata V.;
Harms, Frederike L.;
Güneş, Nilay;
Tidow, Henning;
Schwartz, Ida V.;
Tüysüz, Beyhan;
Pohl, Sandra

Publication type:

Article

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 842, doi. 10.1002/humu.23748

By:

Velho, Renata Voltolini;
Harms, Frederike L.;
Danyukova, Tatyana;
Ludwig, Nataniel F.;
Friez, Michael J.;
Cathey, Sara S.;
Filocamo, Mirella;
Tappino, Barbara;
Güneş, Nilay;
Tüysüz, Beyhan;
Tylee, Karen L.;
Brammeier, Kathryn L.;
Heptinstall, Lesley;
Oussoren, Esmee;
Ploeg, Ans T.;
Petersen, Christine;
Alves, Sandra;
Saavedra, Gloria Durán;
Schwartz, Ida V.;
Muschol, Nicole

Publication type:

Article

MOWAT-WILSON SYNDROME: DEEP PHENOTYPING AND MOLECULAR CHARACTERISATION OF TWELVE NEW INDIVIDUALS.

Published in:

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2025, v. 88, n. 1, p. 26, doi. 10.26650/IUITFD.1597597

By:

ALTUNOĞLU, Umut;
GÜNEŞ, Nilay;
TURGUT, Gözde Tutku;
KALAYCI, Tuğba;
ASLANGER, Ayça Dilruba;
DERBENT, Murat;
ERASLAN, Serpil;
KARAMAN, Birsen;
UYGUNER, Zehra Oya;
TÜYSÜZ, Beyhan;
ALANAY, Yasemin;
KAYSERİLİ, Hülya

Publication type:

Article

Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2976, doi. 10.1002/ajmg.a.62944

By:

Usluer, Esra;
Sayın, Gözde Yeşil;
Güneş, Nilay;
Kasap, Buşra;
Tüysüz, Beyhan

Publication type:

Article

Long‐term follow‐up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1639, doi. 10.1002/ajmg.a.62664

By:

Uludağ Alkaya, Dilek;
Uyguner, Zehra Oya;
Güneş, Nilay;
Tüysüz, Beyhan

Publication type:

Article

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2488, doi. 10.1002/ajmg.a.62261

By:

Berkay, Ezgi Gizem;
Elkanova, Leyla;
Kalaycı, Tuğba;
Uludağ Alkaya, Dilek;
Altunoğlu, Umut;
Cefle, Kıvanç;
Mıhçı, Ercan;
Nur, Banu;
Taşdelen, Elifcan;
Bayramoğlu, Zuhal;
Karaman, Volkan;
Toksoy, Güven;
Güneş, Nilay;
Öztürk, Şükrü;
Palandüz, Şükrü;
Kayserili, Hülya;
Tüysüz, Beyhan;
Uyguner, Zehra Oya

Publication type:

Article

Investigation of (epi)genotype causes and follow‐up manifestations in the patients with classical and atypical phenotype of Beckwith‐Wiedemann spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1721, doi. 10.1002/ajmg.a.62158

By:

Tüysüz, Beyhan;
Güneş, Nilay;
Geyik, Filiz;
Yeşil, Gözde;
Celkan, Tiraje;
Vural, Mehmet

Publication type:

Article

Two novel mutations in XYLT2 cause spondyloocular syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3195, doi. 10.1002/ajmg.a.38470

By:

Taylan, Fulya;
Yavaş Abalı, Zehra;
Jäntti, Nina;
Güneş, Nilay;
Darendeliler, Feyza;
Baş, Firdevs;
Poyrazoğlu, Şükran;
Tamçelik, Nevbahar;
Tüysüz, Beyhan;
Mäkitie, Outi

Publication type:

Article

A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF-1 axis and GH therapy response.

Published in:

Turkish Journal of Pediatrics, 2021, v. 63, n. 1, p. 174, doi. 10.24953/turkjped.2021.01.022

By:

Özer, Emre;
Karaman, Birsen;
Güneş, Nilay;
Evliyaoğlu, Olcay;
Tüysüz, Beyhan

Publication type:

Article

Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 4, p. 376, doi. 10.5152/TurkArchPediatr.2023.23011

By:

Güneş, Nilay;
Alkaya, Dilek Uludağ;
Toylu, Aslı;
Özüdoğru, Püren;
Sunamak, Evrim Çifçi;
Şeker, Ali;
Demir, Bilal;
Kuruğoğlu, Sebuh;
Mıhçı, Ercan;
Tüysüz, Beyhan

Publication type:

Article

The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 1, p. 98, doi. 10.5152/TurkArchPediatr.2022.22223

By:

Güneş, Nilay;
Usluer, Esra;
Ülker, Aylin Yüksel;
Alkaya, Dilek Uludağ;
Sunamak, Evrim Çifçi;
Eyüpoğlu, Figen Celep;
Uyguner, Zehra Oya;
Tüysüz, Beyhan

Publication type:

Article

Neurofibromatosis Type 1 in Children: A Single-Center Experience.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 4, p. 339, doi. 10.5152/TurkArchPediatr.2021.20165

By:

Kaçar, Ayşe Gonca;
Oktay, Burcu Kılınc;
Özel, Simge Çınar;
Ocak, Süheyla;
Güneş, Nilay;
Alkaya, Dilek Uludağ;
Tüysüz, Beyhan;
Apak, Hilmi;
Celkan, Tülin Tiraje

Publication type:

Article

Effects of Long-Term Pamidronate Treatment on Bone Density and Fracture Rate in 65 Osteogenesis Imperfecta Patients.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 5, p. 474, doi. 10.5152/TurkArchPediatr.2021.21077

By:

Yazan, Hakan;
Güneş, Nilay;
Akpınar, Evren;
Yıldırım, Timur;
Özyalvaç, Osman Nuri;
Akkaya, Dilek Uludağ;
Tuysuz, Beyhan

Publication type:

Article

Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients.

Published in:

Annals of Human Genetics, 2021, v. 85, n. 5, p. 155, doi. 10.1111/ahg.12422

By:

Güneş, Nilay;
Yeşil, Gözde;
Geyik, Filiz;
Kasap, Büşra;
Celkan, Tiraje;
Kebudi, Rejin;
Tüysüz, Beyhan

Publication type:

Article

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Published in:

Pediatric Radiology, 2025, v. 55, n. 3, p. 505, doi. 10.1007/s00247-024-06145-7

By:

Güneş, Nilay;
Alkaya, Dilek Uludağ;
Kurugoğlu, Sebuh;
Özyalvaç, Nuri;
Bursalı, Ayşegül;
Elçioğlu, Nursel H.;
Tüysüz, Beyhan

Publication type:

Article

A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR.

Published in:

Molecular Syndromology, 2018, v. 9, n. 5, p. 266, doi. 10.1159/000491568

By:

Güneş, Nilay;
Taşdemir, Emre;
Jeffery, Heather;
Yetik, Hüseyin;
Ostergaard, Pia;
Tüysüz, Beyhan

Publication type:

Article

Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1.

Published in:

Molecular Syndromology, 2018, v. 9, n. 3, p. 134, doi. 10.1159/000488438

By:

Güneş, Nilay;
Yeşil, Gözde;
Beng, Kubilay;
Kahraman, Sinan;
Tüysüz, Beyhan

Publication type:

Article

A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.

Published in:

Molecular Syndromology, 2017, v. 8, n. 6, p. 318, doi. 10.1159/000479721

By:

Türkmen, Seval;
Spielmann, Malte;
Güneş, Nilay;
Knaus, Alexej;
Flöttmann, Ricarda;
Mundlos, Stefan;
Tüysüz, Beyhan

Publication type:

Article

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders: Sclerotic Bone Disorders: D. U. Alkaya et al.

Published in:

Calcified Tissue International, 2025, v. 116, n. 1, p. 1, doi. 10.1007/s00223-025-01366-w

By:

Uludağ Alkaya, Dilek;
Usluer, Esra;
Alp Ünkar, Zeynep;
Şeker, Ali;
Adaletli, İbrahim;
Güneş, Nilay;
Madazlı, Rıza;
Kadıoğlu, Pınar;
Derbent, Murat;
Tüysüz, Beyhan

Publication type:

Article