Works matching AU Alanay, Yasemin

Results: 100

Navigating diagnostic challenges in Xeroderma Pigmentosum variant type.

Published in:

Turkderm - Turkish Archives of Dermatology & Venereology, 2025, v. 59, n. 2, p. 63, doi. 10.4274/turkderm.galenos.2025.38093

By:

Saraç, Gonca;
Dicle, Özlem;
Alanay, Yasemin;
Demirkesen, Cuyan;
Şahin, Sedef

Publication type:

Article

HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 7, p. 1360, doi. 10.1002/acn3.70047

By:

Lee, Eun Hye;
Kim‐Mcmanus, Olivia;
Yang, Jennifer H.;
Haas, Richard;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.;
Nakamura, Yuji;
Abdel‐Hamind, Mohamed S.;
Ebrahimi‐Fakhari, Darius;
Alecu, Julian E.;
Brunetti‐Pierri, Nicola;
Srinivasan, Varunvenkat M.;
Gowda, Vykuntaraju K.;
Gross, Stephanie;
Alanay, Yasemin;
Najarzadeh Totbati, Paria;
Yadavilli, Manya;
Friedman, Liana;
Ojeda, Naomi Meave;
Gleeson, Joseph G.

Publication type:

Article

Gorlin Syndrome in Eleven Patients.

Published in:

Journal of Pediatric Research, 2017, v. 4, n. 2, p. 63, doi. 10.4274/jpr.09326

By:

Utine, Gülen Eda;
Alanay, Yasemin;
Aktaş, Dilek;
Boduroğlu, Koray;
Alikaşifoğlu, Mehmet;
Tunçbilek, Ergül

Publication type:

Article

Mosaic trisomy 8: diagnostic approach with fetal MRI as a complement to ultrasonography.

Published in:

Perinatal Journal / Perinatoloji Dergisi, 2015, v. 23, n. 2, p. 113, doi. 10.2399/prn.15.0232009

By:

Özcan, Ümit Aksoy;
Ulus, Sıla;
Alanay, Yasemin;
Dinçer, Alp;
Yayla, Murat

Publication type:

Article

The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1814, doi. 10.1002/ajmg.a.63207

By:

Karamik, Gokcen;
Tuysuz, Beyhan;
Isik, Esra;
Yilmaz, Aysegul;
Alanay, Yasemin;
Sunamak, Evrim Cifci;
Durmusalioglu, Enise Avci;
Ozkinay, Ferda;
Cetin, Gokhan Ozan;
Ozturk, Nuray;
Mihci, Ercan;
Nur, Banu

Publication type:

Article

The third family with TAF6‐related phenotype: Alazami‐Yuan syndrome.

Published in:

Clinical Genetics, 2020, v. 97, n. 5, p. 795, doi. 10.1111/cge.13711

By:

Tuc, Ecenur;
Bengur, Fuat Baris;
Aykut, Aslan;
Sahin, Ozlem;
Alanay, Yasemin

Publication type:

Article

A new autosomal dominant Peters’ anomaly phenotype expanding the anterior segment dysgenesis spectrum.

Published in:

Acta Ophthalmologica (1755375X), 2009, v. 87, n. 1, p. 52, doi. 10.1111/j.1600-0420.2007.01082.x

By:

Berker, Nilufer;
Alanay, Yasemin;
Elgin, Ufuk;
Volkan-Salanci, Bilge;
Simsek, Tulay;
Akarsu, Nurten;
Alikasifoglu, Mehmet

Publication type:

Article

Real-world evidence in achondroplasia: considerations for a standardized data set.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02755-w

By:

Alanay, Yasemin;
Mohnike, Klaus;
Nilsson, Ola;
Alves, Inês;
AlSayed, Moeenaldeen;
Appelman-Dijkstra, Natasha M.;
Baujat, Genevieve;
Ben-Omran, Tawfeg;
Breyer, Sandra;
Cormier-Daire, Valerie;
Gregersen, Pernille Axél;
Guillén-Navarro, Encarna;
Högler, Wolfgang;
Maghnie, Mohamad;
Mukherjee, Swati;
Cohen, Shelda;
Pimenta, Jeanne;
Selicorni, Angelo;
Semler, J. Oliver;
Sigaudy, Sabine

Publication type:

Article

Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis.

Published in:

Pediatric Blood & Cancer, 2014, v. 61, n. 2, p. 302, doi. 10.1002/pbc.24783

By:

Unal, Sule;
Alanay, Yasemin;
Cetin, Mualla;
Boduroglu, Koray;
Utine, Eda;
Cormier‐Daire, Valerie;
Huber, Celine;
Ozsurekci, Yasemin;
Kilic, Esra;
Simsek Kiper, Ozlem Pelin;
Gumruk, Fatma

Publication type:

Article

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Published in:

Nature Genetics, 2011, v. 43, n. 6, p. 601, doi. 10.1038/ng.826

By:

Putoux, Audrey;
Thomas, Sophie;
Coene, Karlien L. M.;
Davis, Erica E.;
Alanay, Yasemin;
Ogur, Gönül;
Uz, Elif;
Buzas, Daniela;
Gomes, Céline;
Patrier, Sophie;
Bennett, Christopher L.;
Elkhartoufi, Nadia;
Frison, Marie-Hélène Saint;
Rigonnot, Luc;
Joyé, Nicole;
Pruvost, Solenn;
Utine, Gulen Eda;
Boduroglu, Koray;
Nitschke, Patrick;
Fertitta, Laura

Publication type:

Article

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

Published in:

Nature Genetics, 2011, v. 43, n. 2, p. 132, doi. 10.1038/ng.749

By:

Lausch, Ekkehart;
Janecke, Andreas;
Bros, Matthias;
Trojandt, Stefanie;
Alanay, Yasemin;
De Laet, Corinne;
Hübner, Christian A.;
Meinecke, Peter;
Nishimura, Gen;
Matsuo, Mari;
Hirano, Yoshiko;
Tenoutasse, Sylvie;
Kiss, Andrea;
Machado Rosa, Rafael Fabiano;
Unger, Sharon L.;
Renella, Raffaele;
Bonafé, Luisa;
Spranger, Jürgen;
Unger, Sheila;
Zabel, Bernhard

Publication type:

Article

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 5, p. 493

By:

Türkkanı-Asal, Gülten;
Alanay, Yasemin;
Turul-Özgür, Tuba;
Zenker, Martin;
Thiel, Christian;
Rauch, Anita;
Ünal, Şule;
Gürgey, Aytemiz;
Tezcan, İlhan

Publication type:

Article

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 3, p. 294

By:

Şimşek, Pelin Özlem;
Ütine, Gülen Eda;
AIikaşifoğlu, Ayfer;
Alanay, Yasemin;
Boduroğlu, Koray;
Kandemir, Nurgün

Publication type:

Article

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 3, p. 199, doi. 10.24953/turkjped.2009.2288

By:

Ütine, Gülen Eda;
Çelik, Tolga;
Alanay, Yasemin;
Alikaşifoğlu, Mehmet;
Boduroğlu, Koray;
Tunçbilek, Ergül;
Aktaş, Dilek

Publication type:

Article

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.

Published in:

Turkish Journal of Pediatrics, 2008, v. 50, n. 3, p. 287

By:

Utine, G. Eda;
Alanay, Yasemin;
Aktaş, Dilek;
Talim, Beril;
Kale, Gülsev;
Tunçbilek, Ergül

Publication type:

Article

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 9, p. 3585, doi. 10.1172/JCI80102

By:

Bögershausen, Nina;
I.-Chun Tsai;
Pohl, Esther;
SimsekKiper, Pelin Özlem;
Beleggia, Filippo;
Percin, E. Ferda;
Keupp, Katharina;
Matchan, Angela;
Milz, Esther;
Alanay, Yasemin;
Kayserili, Hülya;
Yicheng Liu;
Banka, Siddharth;
Kranz, Andrea;
Zenker, Martin;
Wieczorek, Dagmar;
Elcioglu, Nursel;
Prontera, Paolo;
Lyonnet, Stanislas;
Meitinger, Thomas

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

Clinical Utility of Molecular Autopsy in Fetal and Pediatric Patients with Suspected Genetic Disorders.

Published in:

Gümüshane Üniversitesi Saglik Bilimleri Dergisi, 2022, v. 11, n. 1, p. 82, doi. 10.37989/gumussagbil.1078850

By:

AKGÜN-DOĞAN, Özlem;
AĞAOĞLU, Nihat Buğra;
ALANAY, Yasemin

Publication type:

Article

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.

Published in:

Genes, 2023, v. 14, n. 6, p. 1179, doi. 10.3390/genes14061179

By:

Parra, Alejandro;
Rabin, Rachel;
Pappas, John;
Pascual, Patricia;
Cazalla, Mario;
Arias, Pedro;
Gallego-Zazo, Natalia;
Santana, Alfredo;
Arroyo, Ignacio;
Artigas, Mercè;
Pachajoa, Harry;
Alanay, Yasemin;
Akgun-Dogan, Ozlem;
Ruaud, Lyse;
Couque, Nathalie;
Levy, Jonathan;
Porras-Hurtado, Gloria Liliana;
Santos-Simarro, Fernando;
Ballesta-Martinez, Maria Juliana;
Guillén-Navarro, Encarna

Publication type:

Article

Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Published in:

Nature Genetics, 2015, v. 47, n. 3, p. 304, doi. 10.1038/ng0315-304b

By:

Simons, Cas;
Rash, Lachlan D;
Crawford, Joanna;
Ma, Linlin;
Cristofori-Armstrong, Ben;
Miller, David;
Ru, Kelin;
Baillie, Gregory J;
Alanay, Yasemin;
Jacquinet, Adeline;
Debray, François-Guillaume;
Verloes, Alain;
Shen, Joseph;
Yesil, Gözde;
Guler, Serhat;
Yuksel, Adnan;
Cleary, John G;
Grimmond, Sean M;
McGaughran, Julie;
King, Glenn F

Publication type:

Article

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Published in:

Nature Genetics, 2015, v. 47, n. 1, p. 73, doi. 10.1038/ng.3153

By:

Simons, Cas;
Rash, Lachlan D;
Crawford, Joanna;
Ma, Linlin;
Cristofori-Armstrong, Ben;
Ru, Kelin;
Baillie, Gregory J;
King, Glenn F;
McGaughran, Julie;
Gabbett, Michael T;
Taft, Ryan J;
Miller, David;
Alanay, Yasemin;
Jacquinet, Adeline;
Debray, François-Guillaume;
Verloes, Alain;
Shen, Joseph;
Yesil, Gözde;
Guler, Serhat;
Yuksel, Adnan

Publication type:

Article

Cyclic pamidronate treatment in Bruck syndrome: Proposal of a new modality of treatment.

Published in:

Pediatrics International, 2008, v. 50, n. 6, p. 836, doi. 10.1111/j.1442-200X.2008.02752.x

By:

Andiran, Nesibe;
Alikasifoglu, Ayfer;
Alanay, Yasemin;
Yordam, Nursen

Publication type:

Article

Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey.

Published in:

Molecular Syndromology, 2020, v. 11, n. 4, p. 183, doi. 10.1159/000509838

By:

Toksoy, Güven;
Uludağ Alkaya, Dilek;
Bagirova, Gülendam;
Avcı, Şahin;
Aghayev, Agharza;
Günes, Nilay;
Altunoğlu, Umut;
Alanay, Yasemin;
Başaran, Seher;
Berkay, Ezgi G.;
Karaman, Birsen;
Celkan, Tiraje T.;
Apak, Hilmi;
Kayserili, Hülya;
Tüysüz, Beyhan;
Uyguner, Zehra O.

Publication type:

Article

Clinical Heterogeneity of Hereditary Optic Atrophy in a Turkish Family.

Published in:

Neuro-Ophthalmology, 2005, v. 29, n. 1, p. 9, doi. 10.1080/01658100490900719

By:

Acaroglu, Golge;
Alanay, Yasemin;
Reynier, Pascal;
Amati-Bonneau, Patrizia;
Men, Gamze

Publication type:

Article

Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II).

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 10, p. 1567, doi. 10.1007/s00431-012-1732-6

By:

Kılıç, Esra;
Utine, Eda;
Ünal, Şule;
Haliloğlu, Göknur;
Oğuz, Kader;
Çetin, Mualla;
Boduroğlu, Koray;
Alanay, Yasemin

Publication type:

Article

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene.

Published in:

2010

By:

Gok, Faysal;
Crettol, Lauréane Mittaz;
Alanay, Yasemin;
Hacıhamdioglu, Bulent;
Kocaoglu, Murat;
Bonafe, Luisa;
Ozen, Seza;
Crettol, Lauréane Mittaz;
Hacihamdioglu, Bulent

Publication type:

journal article

A Review on Cutaneous and Musculoskeletal Manifestations of CLOVES Syndrome.

Published in:

Clinical, Cosmetic & Investigational Dermatology, 2022, v. 15, p. 621, doi. 10.2147/CCID.S351637

By:

Durmaz, Emel Öztürk;
Demircioğlu, Deniz;
Dikmen, Pınar Yalınay;
Alanay, Yasemin;
Alanay, Ahmet;
Demirkesen, Cüyan;
Tokat, Fatma;
Karaarslan, Ercan

Publication type:

Article

İnfantil Sistemik Hyalinozis: Bir Olgu Sunumu.

Published in:

Archives of the Turkish Dermatology & Venerology / Turkderm, 2009, v. 43, n. 3, p. 112

By:

Gündüz, Özge;
Evans, Sibel Ersoy;
Boduroğlu, Koray;
Alanay, Yasemin;
Özkaya, Özay

Publication type:

Article

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.

Published in:

2015

By:

Atik, Tahir;
Koparir, Asuman;
Bademci, Guney;
Foster II, Joseph;
Altunoglu, Umut;
Mutlu, Gül Yesiltepe;
Bowdin, Sarah;
Elcioglu, Nursel;
Tayfun, Gulsen A.;
Atik, Sevinc Sahin;
Ozen, Mustafa;
Ozkinay, Ferda;
Alanay, Yasemin;
Kayserili, Hulya;
Thiel, Steffen;
Tekin, Mustafa;
Foster, Joseph 2nd

Publication type:

journal article

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-60

By:

Ahmet Arman;
Abdullah Bereket;
Ajda Coker;
Pelin Özlem Şimşek Kiper;
Tülay Güran;
Behzat Özkan;
Zeynep Atay;
Teoman Akçay;
Belma Haliloğlu;
Koray Boduroğlu;
Yasemin Alanay;
Serap Turan

Publication type:

Article

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.

Published in:

2014

By:

Arman, Ahmet;
Bereket, Abdullah;
Coker, Ajda;
Kiper, Pelin Özlem Simsek;
Güran, Tülay;
Ozkan, Behzat;
Atay, Zeynep;
Akçay, Teoman;
Haliloglu, Belma;
Boduroglu, Koray;
Alanay, Yasemin;
Turan, Serap;
Kiper, Pelin Özlem Simşek

Publication type:

journal article

Congenital contractural arachnodactyly (Beals syndrome).

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 20, doi. 10.1186/1750-1172-1-20

By:

Tunçbilek, Ergül;
Alanay, Yasemin

Publication type:

Article

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1472, doi. 10.1002/humu.21125

By:

Bornholdt, Dorothea;
Oeffner, Frank;
König, Arne;
Happle, Rudolf;
Alanay, Yasemin;
Ascherman, Jeffrey;
Benke, Paul J.;
del Carmen Boente, María;
van der Burgt, Ineke;
Chassaing, Nicolas;
Ellis, Ian;
Francisco, Christina Raissa I.;
Giovanna, Patricia Della;
Hamel, Ben;
Has, Cristina;
Heinelt, Kaatje;
Janecke, Andreas;
Kastrup, Wolfgang;
Loeys, Bart;
Lohrisch, Ingo

Publication type:

Article

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E618, doi. 10.1002/humu.20992

By:

Bornholdt, Dorothea;
Oeffner, Frank;
König, Arne;
Happle, Rudolf;
Alanay, Yasemin;
Ascherman, Jeffrey;
Benke, Paul J.;
del Carmen Boente, María;
van der Burgt, Ineke;
Chassaing, Nicolas;
Ellis, Ian;
Francisco, Christina Raissa I.;
Giovanna, Patricia Della;
Hamel, Ben;
Has, Cristina;
Heinelt, Kaatje;
Janecke, Andreas;
Kastrup, Wolfgang;
Loeys, Bart;
Lohrisch, Ingo

Publication type:

Article

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1347474

By:

Akgun-Dogan, Ozlem;
Bengur, Ecenur Tuc;
Ay, Beril;
Ozkose, Gulsah Sebnem;
Kar, Emre;
Bengur, Fuat Baris;
Bulut, Aybike S.;
Yigit, Ayca;
Aydin, Eylul;
Esen, Fatma Nisa;
Ozdemir, Ozkan;
Yesilyurt, Ahmet;
Alanay, Yasemin

Publication type:

Article

Intrauterine Cataract Diagnosis and Follow-up.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2020, v. 50, n. 4, p. 245, doi. 10.4274/tjo.galenos.2020.05014

By:

Aksay, Sevinç;
Bildirici, İbrahim;
Coşar, Cemile Banu;
Alanay, Yasemin;
Ciğercioğulları, Engin

Publication type:

Article

Tam ektopia kordisli bir Cantrell pentalojisi vakasi.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2011, v. 54, n. 2, p. 83

By:

Kiliç, Esra;
Alanay, Yasemin;
Korkmaz, Ayşe;
Ütine, Eda;
Karagöz, Tevfik;
Boduroğlu, Koray

Publication type:

Article

Hacettepe Üniversitesi Hastanesi 2001-2006 dönemi perinatal mortalite analizi.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2010, v. 53, n. 3, p. 175

By:

Korkmaz, Ayşe;
Akçören, Zuhal;
Alanay, Yasemin;
Özyüncü, Özgür;
Yiğit, Şule;
Deren, Özgür;
Talim, Beril;
Orhan, Diclehan;
Güçer, Şafak;
Yurdakök, Murat;
Önderoğlu, Lütfü;
Kale, Gülsev;
Tekinalp, Gülsevin;
Özkutlu, Süheyla;
Çiftçi, Arbay Özden;
Şimşek, Özlem Pelin;
Ütine, Gülen Eda;
Durukan, Tekin;
Tunçbilek, Ergül

Publication type:

Article

Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia.

Published in:

Pediatric Blood & Cancer, 2009, v. 53, n. 2, p. 208, doi. 10.1002/pbc.21966

By:

Sari, Neriman;
Akyuz, Canan;
Aktas, Dilek;
Gumruk, Fatma;
Orhan, Diclehan;
Alikasifoglu, Mehmet;
Aydin, Burca;
Alanay, Yasemin;
Buyukpamukcu, Munevver

Publication type:

Article

Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.

Published in:

Turkish Journal of Pediatrics, 2018, v. 60, n. 5, p. 506, doi. 10.24953/turkjped.2018.05.006

By:

Bilgin, Burçak;
Kabaçam, Serkan;
Taşkıran, Ekim;
Şimşek-Kiper, Pelin Özlem;
Alanay, Yasemin;
Boduroğlu, Koray;
Utine, Gülen Eda

Publication type:

Article

Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.

Published in:

Turkish Journal of Pediatrics, 2017, v. 58, n. 5, p. 541

By:

Aka, Sibel;
Alanay, Yasemin;
Boodhansingh, Kara E.;
Stanley, Charles A.;
Semiz, Serap

Publication type:

Article

A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings.

Published in:

Turkish Journal of Pediatrics, 2014, v. 56, n. 4, p. 430

By:

Kılıç, Esra;
Kılıç, Mustafa;
Ütine, G. Eda;
Sivri, Serap;
Coskun, Turgay;
Alanay, Yasemin

Publication type:

Article

Celiac disease in Williams-Beuren syndrome.

Published in:

Turkish Journal of Pediatrics, 2014, v. 56, n. 2, p. 154

By:

Şimşek-Kiper, Pelin Özlem;
Şahin, Yavuz;
Arslan, Umut;
Alanay, Yasemin;
Boduroğlu, Koray;
Orhan, Diclehan;
Özen, Hasan;
Ütine, Gülen Eda

Publication type:

Article

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

Published in:

Turkish Journal of Pediatrics, 2014, v. 56, n. 1, p. 80

By:

Şimşek-Kiper, Pelin Özlem;
Bayram, Yavuz;
Ütine, Gülen Eda;
Alanay, Yasemin;
Boduroğlu, Koray

Publication type:

Article

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.RS37P in the TGFBR2 gene.

Published in:

Turkish Journal of Pediatrics, 2012, v. 54, n. 2, p. 198

By:

Kılıc, Esra;
Alanay, Yasemin;
Ütine, Eda;
Özgen-Mocan, Burçe;
Robinson, Peter N.;
Boduroğlu, Koray

Publication type:

Article

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Published in:

Turkish Journal of Pediatrics, 2011, v. 53, n. 5, p. 558

By:

Şimşek-Kiper, Pelin Özlem;
Ütine, Gülen Eda;
Alanay, Yasemin;
Aktaş, Dilek;
Alikaşifoğlu, Mehmet;
Boduroğlu, Koray

Publication type:

Article

Spondyloenchondrodysplasia: a rare cause of short stature.

Published in:

Turkish Journal of Pediatrics, 2011, v. 53, n. 4, p. 464

By:

Yeşiltepe-Mutlu, Gül;
Çzmecioşlu, Mine;
Alanay, Yasemin;
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Filiz, Elif Özsu

Publication type:

Article

Cowden syndrome with bronchial asthma.

Published in:

Turkish Journal of Pediatrics, 2010, v. 52, n. 3, p. 330

By:

Özsürekci, Yasemin;
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Article

The Skeletal Dysplasias.

Published in:

Annals of the New York Academy of Sciences, 2007, v. 1117, p. 302, doi. 10.1196/annals.1402.072

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RIMOIN, DAVID L.;
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KRAKOW, DEBORAH;
WILCOX, WILLIAM;
LACHMAN, RALPH S.;
ALANAY, YASEMIN

Publication type:

Article

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Published in:

Human Genetics, 2015, v. 134, n. 6, p. 553, doi. 10.1007/s00439-015-1535-8

By:

Bramswig, Nuria;
Lüdecke, Hermann-Josef;
Alanay, Yasemin;
Albrecht, Beate;
Barthelmie, Alexander;
Boduroglu, Koray;
Braunholz, Diana;
Caliebe, Almuth;
Chrzanowska, Krystyna;
Czeschik, Johanna;
Endele, Sabine;
Graf, Elisabeth;
Guillén-Navarro, Encarna;
Kiper, Pelin;
López-González, Vanesa;
Parenti, Ilaria;
Pozojevic, Jelena;
Utine, Gulen;
Wieland, Thomas;
Kaiser, Frank

Publication type:

Article