Works matching AU KAYSERİLİ, Hülya

Results: 95

Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome).

Published in:

2005

By:

Kumru, Pınar;
Aka, Nurettin;
Köse, Gültekin;
Vural, Zeynep Tuzcular;
Peker, Önder;
Kayserili, Hülya;
Kumru, Pinar;
Köse, Gültekin;
Peker, Onder;
Kayserili, Hülya

Publication type:

journal article

Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva.

Published in:

2016

By:

Hasegawa, Sachi;
Victoria, Teresa;
Kayserili, Hülya;
Zackai, Elaine;
Nishimura, Gen;
Haga, Nobuhiko;
Nakashima, Yasuharu;
Miyazaki, Osamu;
Kitoh, Hiroshi;
Kayserili, Hülya

Publication type:

journal article

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.

Published in:

Human Mutation, 2020, v. 41, n. 1, p. 265, doi. 10.1002/humu.23921

By:

Palencia‐Campos, Adrián;
Martínez‐Fernández, María‐Luisa;
Altunoglu, Umut;
Soto‐Bielicka, Patricia;
Torres, Antonio;
Marín, Purificación;
Aller, Elena;
Şentürk, Leyli;
Berköz, Ömer;
Yıldıran, Mehmet;
Kayserili, Hülya;
Gil‐Camarero, Elena;
Colli‐Lista, Gloria;
Sanchís‐Calvo, Amparo;
Carretero, Alba;
Guillén‐Navarro, Encarna;
López‐González, Vanesa;
Ballesta‐Martínez, María;
Rosell, Jordi;
Aglan, Mona S.

Publication type:

Article

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 847, doi. 10.1002/humu.23026

By:

Bögershausen, Nina;
Gatinois, Vincent;
Riehmer, Vera;
Kayserili, Hülya;
Becker, Jutta;
Thoenes, Michaela;
Simsek‐Kiper, Pelin Özlem;
Barat‐Houari, Mouna;
Elcioglu, Nursel H.;
Wieczorek, Dagmar;
Tinschert, Sigrid;
Sarrabay, Guillaume;
Strom, Tim M.;
Fabre, Aurélie;
Baynam, Gareth;
Sanchez, Elodie;
Nürnberg, Gudrun;
Altunoglu, Umut;
Capri, Yline;
Isidor, Bertrand

Publication type:

Article

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

Published in:

Human Mutation, 2015, v. 36, n. 11, p. 1112, doi. 10.1002/humu.22830

By:

Sukalo, Maja;
Tilsen, Felix;
Kayserili, Hülya;
Müller, Dietmar;
Tüysüz, Beyhan;
Ruddy, Deborah M.;
Wakeling, Emma;
Ørstavik, Karen Helene;
Bramswig, Nuria C.;
Snape, Katie M.;
Trembath, Richard;
Smedt, Maryse;
der Aa, Nathalie;
Skalej, Martin;
Mundlos, Stefan;
Wuyts, Wim;
Southgate, Laura;
Zenker, Martin

Publication type:

Article

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 593, doi. 10.1002/humu.22795

By:

Sukalo, Maja;
Tilsen, Felix;
Kayserili, Hülya;
Müller, Dietmar;
Tüysüz, Beyhan;
Ruddy, Deborah M.;
Wakeling, Emma;
Ørstavik, Karen Helene;
Snape, Katie M.;
Trembath, Richard;
Smedt, Maryse;
Aa, Nathalie;
Skalej, Martin;
Mundlos, Stefan;
Wuyts, Wim;
Southgate, Laura;
Zenker, Martin

Publication type:

Article

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.

Published in:

Human Mutation, 2014, v. 35, n. 1, p. 76, doi. 10.1002/humu.22461

By:

Murray, Jennie E.;
Bicknell, Louise S.;
Yigit, Gökhan;
Duker, Angela L.;
Kogelenberg, Margriet;
Haghayegh, Sara;
Wieczorek, Dagmar;
Kayserili, Hülya;
Albert, Michael H.;
Wise, Carol A.;
Brandon, January;
Kleefstra, Tjitske;
Warris, Adilia;
Flier, Michiel;
Bamforth, J. Steven;
Doonanco, Kurston;
Adès, Lesley;
Ma, Alan;
Field, Michael;
Johnson, Diana

Publication type:

Article

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations.

Published in:

Human Mutation, 2013, v. 34, n. 10, p. 1381, doi. 10.1002/humu.22377

By:

Iida, Aritoshi;
Simsek‐Kiper, Pelin Özlem;
Mizumoto, Shuji;
Hoshino, Touma;
Elcioglu, Nursel;
Horemuzova, Eva;
Geiberger, Stefan;
Yesil, Gozde;
Kayserili, Hülya;
Utine, Gülen Eda;
Boduroglu, Koray;
Watanabe, Shigehiko;
Ohashi, Hirofumi;
Alanay, Yasemin;
Sugahara, Kazuyuki;
Nishimura, Gen;
Ikegawa, Shiro

Publication type:

Article

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 641, doi. 10.1002/humu.20916

By:

Chung, Boi-Dinh;
Kayserili, Hülya;
Ai, Minrong;
Freudenberg, Jan;
Üzümcü, Abdullah;
Uyguner, Oya;
Bartels, Cynthia F.;
Höning, Stefan;
Ramirez, Alfredo;
Hanisch, Franz-Georg;
Nürnberg, Gudrun;
Nürnberg, Peter;
Warman, Matthew L.;
Wollnik, Bernd;
Kubisch, Christian;
Netzer, Christian

Publication type:

Article

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1082, doi. 10.1002/humu.20388

By:

Stum, Morgane;
Davoine, Claire-Sophie;
Vicart, Savine;
Guillot-Noël, Léna;
Topaloglu, Haluk;
Carod-Artal, Francisco Javier;
Kayserili, Hülya;
Hentati, Fayçal;
Merlini, Luciano;
Urtizberea, Jon Andoni;
Hammouda, EL-Hadi;
Quan, Phuc Canh;
Fontaine, Bertrand;
Nicole, Sophie

Publication type:

Article

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 861, doi. 10.1038/sj.ejhg.5200552

By:

Demuth, Ilja;
Wlodarski, Marcin;
Tipping, Alex J;
Morgan, Neil V;
de Winter, Johan P;
Thiel, Michaela;
Gräsl, Sonja;
Schindler, Detlev;
D'Andrea, Alan D;
Altay, Cigdem;
Kayserili, Hülya;
Zatterale, Adriana;
Kunze, Jürgen;
Ebell, Wolfram;
Mathew, Christopher G;
Joenje, Hans;
Sperling, Karl;
Digweed, Martin

Publication type:

Article

Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 765, doi. 10.1038/sj.ejhg.5200370

By:

Eraslan, Serpil;
Kayserili, Hülya;
Apak, Memnune Yüksel;
Kirdar, Betül

Publication type:

Article

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0395-z

By:

Karaman, Birsen;
Kayserili, Hülya;
Ghanbari, Asadollah;
Uyguner, Zehra Oya;
Toksoy, Güven;
Altunoglu, Umut;
Basaran, Seher

Publication type:

Article

Migraine, White Matter Lesions and Subarachnoid Hemorrhage: Analysis of a Large Pedigree.

Published in:

2010

By:

MATUR, Zeliha;
POYRAZ, Mürüvvet;
UYGUNER, Oya;
KAYSERİLİ, Hülya;
GÜVELİ Betül^BAYKAN, Betül

Publication type:

Case Study

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

Published in:

Nature Genetics, 2012, v. 44, n. 6, p. 709, doi. 10.1038/ng.2259

By:

Bonnard, Carine;
Strobl, Anna C;
Shboul, Mohammad;
Lee, Hane;
Merriman, Barry;
Nelson, Stanley F;
Ababneh, Osama H;
Uz, Elif;
Güran, Tülay;
Kayserili, Hülya;
Hamamy, Hanan;
Reversade, Bruno

Publication type:

Article

CEP152 is a genome maintenance protein disrupted in Seckel syndrome.

Published in:

Nature Genetics, 2011, v. 43, n. 1, p. 23, doi. 10.1038/ng.725

By:

Kalay, Ersan;
Yigit, Gökhan;
Aslan, Yakup;
Brown, Karen E.;
Pohl, Esther;
Bicknell, Louise S.;
Kayserili, Hülya;
Yun Li;
Tüysüz, Beyhan;
Nürnberg, Gudrun;
Kiess, Wieland;
Koegl, Manfred;
Baessmann, Ingelore;
Buruk, Kurtulus;
Toraman, Bayram;
Kayipmaz, Saadettin;
Kul, Sibel;
Ikbal, Mevlit;
Turner, Daniel J.;
Taylor, Martin S.

Publication type:

Article

Mutations in PYCR1 cause cutis laxa with progeroid features.

Published in:

Nature Genetics, 2009, v. 41, n. 9, p. 1016, doi. 10.1038/ng.413

By:

Reversade, Bruno;
Escande-Beillard, Nathalie;
Dimopoulou, Aikaterini;
Fischer, Björn;
Chng, Serene C;
Yun Li;
Shboul, Mohammad;
Tham, Puay-Yoke;
Kayserili, Hülya;
Al-Gazali, Lihadh;
Shahwan, Monzer;
Brancati, Francesco;
Lee, Hane;
O'Connor, Brian D;
Kegler, Mareen Schmidt-von;
Merriman, Barry;
Nelson, Stanley F.;
Masri, Amira;
Alkazaleh, Fawaz;
Guerra, Deanna

Publication type:

Article

Mutations in different components of FGF signaling in LADD syndrome.

Published in:

Nature Genetics, 2006, v. 38, n. 4, p. 414, doi. 10.1038/ng1757

By:

Rohmann, Edyta;
Brunner, Han G.;
Kayserili, Hülya;
Uyguner, Oya;
Nürnberg, Gudrun;
Lew, Erin D.;
Dobbie, Angus;
Eswarakumar, Veraragavan P.;
Uzumcu, Abdullah;
Ulubil-Emeroglu, Melike;
Leroy, Jules G.;
Yun Li;
Becker, Christian;
Lehnerdt, Kai;
Cremers, Cor W. R. J.;
Yüksel-Apak, Memnune;
Nürnberg, Peter;
Kubisch, Christian;
Schlessinger, Joseph;
van Bokhoven, Hans

Publication type:

Article

Erratum: Mutations in different components of FGF signaling in LADD syndrome.

Published in:

2006

By:

Rohmann, Edyta;
Brunner, Han G;
Kayserili, Hülya;
Uyguner, Oya;
Nürnberg, Gudrun;
Lew, Erin D.;
Dobbie, Angus;
Eswarakumar, Veraragavan P.;
Uzumcu, Abdullah;
Ulubil-Emeroglu, Melike;
Leroy, Jules G.;
Yun Li;
Becker, Christian;
Lehnerdt, Kai;
Cremers, Cor W. R. J.;
Yüksel-Apak, Memnune;
Nürnberg, Peter;
Kubisch, Christian;
Schlessinger, Joseph;
van Bokhoven, Hans

Publication type:

Correction Notice

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.

Published in:

Nature Genetics, 2005, v. 37, n. 5, p. 468, doi. 10.1038/ng1548

By:

Vega, Hugo;
Waisfisz, Quinten;
Gordillo, Miriam;
Sakai, Norio;
Yanagihara, Itaru;
Yamada, Minoru;
Gosliga, Djoke van;
Kayserili, Hülya;
Xu, Chengzhe;
Ozono, Keiichi;
Jabs, Ethylin Wang;
Inui, Koji;
Joenje, Hans

Publication type:

Article

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

Published in:

Nature Genetics, 2000, v. 25, n. 4, p. 423, doi. 10.1038/78113

By:

van Bokhoven, Hans;
Celli, Jacopo;
Kayserili, Hülya;
van Beusekom, Ellen;
Balci, Sevim;
Brussel, Wim;
Skovby, Flemming;
Kerr, Bronwyn;
Percin, E. Ferda;
Akarsu, Nurten;
Brunner, Han G.

Publication type:

Article

17β-Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations.

Published in:

Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 12, p. 4713, doi. 10.1210/jc.84.12.4713

By:

BOEHMER, ANNEMIE L. M.;
BRINKMANN, ALBERT O.;
SANDKUIJL, LODEWIJK A.;
HALLEY, DICKY J. J.;
NIERMEIJER, MARTINUS F.;
ANDERSSON, STEFAN;
DE JONG, FRANK H.;
KAYSERILI, HÜLYA;
DE VROEDE, MONIQUE A.;
OTTEN, BARTO J.;
ROUWÉ, CATRIENUS W.;
MENDONÇA, BERENICE B.;
RODRIGUES, CIDADE;
BODE, HANS H.;
DE RUITER, PETRA E.;
DELEMARRE-VAN DE WAAL, HENRIETTE A.;
DROP, STENVERT L. S.

Publication type:

Article

A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly.

Published in:

2009

By:

Karaman, Birsen;
Rosti, Rasim Özgür;
Yılmaz, Kader;
Öztürk, Havva;
Kayserili, Hülya;
Başaran, Seher

Publication type:

Case Study

Kabuki make-up syndrome with unilateral renal agenesis.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 3, p. 298

By:

Rosti, Rasim Özgür;
Kayserili, Hülya

Publication type:

Article

Ataxia with vitamin E deficiency associated with deafness.

Published in:

Turkish Journal of Pediatrics, 2008, v. 50, n. 6, p. 471

By:

Kara, Bülent;
Üzümcü, Abdullah;
Uyguner, Oya;
Özgür^Rosti, Rasim;
Koçbaş, Ayça;
Özmen, Meral;
Kayserili, Hülya

Publication type:

Article

Ataxia with vitamin E deficiency associated with deafness.

Published in:

Turkish Journal of Pediatrics, 2008, v. 50, n. 5, p. 471

By:

Kara, Bülent;
Üzümcü, Abdullah;
Uyguner, Oya;
Rosti, Rasim Özgür;
Koçbaş, Ayça;
Özmen, Meral;
Kayserili, Hülya

Publication type:

Article

Angelman syndrome: clinical findings and follow-up data of 14 patients.

Published in:

Turkish Journal of Pediatrics, 2008, v. 50, n. 2, p. 137

By:

Kara, Bülent;
Karaman, Birsen;
Özmen, Meral;
Rosti, Rasim Özgür;
Çalişkan, Mine;
Kayserili, Hülya;
Başaran, Seher

Publication type:

Article

Down Syndrome Diagnosis Based on Gabor Wavelet Transform.

Published in:

Journal of Medical Systems, 2012, v. 36, n. 5, p. 3205, doi. 10.1007/s10916-011-9811-1

By:

Saraydemir, Şafak;
Taşpınar, Necmi;
Eroğul, Osman;
Kayserili, Hülya;
Dinçkan, Nuriye

Publication type:

Article

LİZENSEFALİ SPEKTRUMU OLGULARINDA GENOTİP-FENOTİP İLİŞKİSİ.

Published in:

Journal of Advanced Research in Health Sciences (JARHS) / Sağlık Bilimlerinde İleri Araştırmalar Dergisi (SABİAD), 2022, v. 5, n. 3, p. 160, doi. 10.26650/JARHS2022-1107813

By:

ASLANGER, Ayça Dilruba;
UYGUNER, Z. Oya;
KARAMAN, Birsen;
BAŞARAN, Seher;
KAYSERİLİ, Hülya

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

GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION.

Published in:

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022, v. 85, n. 2, p. 162, doi. 10.26650/IUITFD.1011501

By:

GÜLEÇ, Çağrı;
ASLANGER, Ayça Dilruba;
KARAMAN, Volkan;
WOLLNIK, Bernd;
TEPGEÇ, Fatih;
KAYSERİLİ, Hülya;
Oya UYGUNER, Z.

Publication type:

Article

HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES.

Published in:

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2021, v. 84, n. 2, p. 186, doi. 10.26650/IUITFD.2020.0071

By:

KARAMAN, Birsen;
ERGİN, Selvi;
KAYSERİLİ, Hülya;
YÜKSEL, Atıl;
SATKIN, Nihan Bilge;
KALELİOĞLU, İbrahim Halil;
HAS, Recep;
BAŞARAN, Seher

Publication type:

Article

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2766, doi. 10.1093/hmg/ddac071

By:

Motta, Marialetizia;
Solman, Maja;
Bonnard, Adeline A;
Kuechler, Alma;
Pantaleoni, Francesca;
Priolo, Manuela;
Chandramouli, Balasubramanian;
Coppola, Simona;
Pizzi, Simone;
Zara, Erika;
Ferilli, Marco;
Kayserili, Hülya;
Onesimo, Roberta;
Leoni, Chiara;
Brinkmann, Julia;
Vial, Yoann;
Kamphausen, Susanne B;
Thomas-Teinturier, Cécile;
Guimier, Anne;
Cordeddu, Viviana

Publication type:

Article

homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1 -related osteogenesis imperfecta.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1801, doi. 10.1093/hmg/ddz017

By:

Guillemyn, Brecht;
Kayserili, Hülya;
Demuynck, Lynn;
Sips, Patrick;
Paepe, Anne De;
Syx, Delfien;
Coucke, Paul J;
Malfait, Fransiska;
Symoens, Sofie

Publication type:

Article

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4556, doi. 10.1093/hmg/ddx335

By:

Palencia-Campos, Adrian;
Ullah, Asmat;
Nevado, Julian;
Yıldırım, Ruken;
Unal, Edip;
Ciorraga, Maria;
Barruz, Pilar;
Chico, Lucia;
Piceci-Sparascio, Francesca;
Guida, Valentina;
De Luca, Alessandro;
Kayserili, Hülya;
Ullah, Irfan;
Burmeister, Margit;
Lapunzina, Pablo;
Ahmad, Wasim;
Morales, Aixa V.;
Ruiz-Perez, Victor L.

Publication type:

Article

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5121, doi. 10.1093/hmg/ddt366

By:

Wieczorek, Dagmar;
Bögershausen, Nina;
Beleggia, Filippo;
Steiner-Haldenstätt, Sabine;
Pohl, Esther;
Li, Yun;
Milz, Esther;
Martin, Marcel;
Thiele, Holger;
Altmüller, Janine;
Alanay, Yasemin;
Kayserili, Hülya;
Klein-Hitpass, Ludger;
Böhringer, Stefan;
Wollstein, Andreas;
Albrecht, Beate;
Boduroglu, Koray;
Caliebe, Almuth;
Chrzanowska, Krystyna;
Cogulu, Ozgur

Publication type:

Article

Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A‐Related Phenotypes.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 390, doi. 10.1111/cge.14672

By:

Altunoglu, Umut;
Turgut, Gozde Tutku;
Özturan, Esin Karakılıç;
Kalaycı, Tuğba;
Kaya, Mert;
Toksoy, Güven;
Baş, Firdevs;
Kayserili, Hülya;
Darendeliler, Feyza

Publication type:

Article

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.

Published in:

Clinical Genetics, 2024, v. 105, n. 6, p. 596, doi. 10.1111/cge.14490

By:

Turgut, Gozde Tutku;
Altunoglu, Umut;
Gulec, Cagri;
Sarac Sivrikoz, Tugba;
Kalaycı, Tuğba;
Toksoy, Guven;
Avcı, Şahin;
Yıldırım, Behiye Tuğçe;
Sayın, Gözde Yeşil;
Kalelioglu, Ibrahim Halil;
Karaman, Birsen;
Has, Recep;
Başaran, Seher;
Yuksel, Atil;
Kayserili, Hülya;
Uyguner, Zehra Oya

Publication type:

Article

Revisiting TOP2B‐related phenotypes: Three new cases and literature review.

Published in:

Clinical Genetics, 2023, v. 104, n. 2, p. 251, doi. 10.1111/cge.14341

By:

Çepni, Ece;
Börklü, Esra;
Avcı, Şahin;
Kalaycı, Tuğba;
Eraslan, Serpil;
Kayserili, Hülya

Publication type:

Article

Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 221, doi. 10.1111/cge.14086

By:

Altunoglu, Umut;
Börklü, Esra;
Shukla, Anju;
Escande‐Beillard, Nathalie;
Ledig, Susanne;
Azaklı, Hülya;
Nayak, Shalini S.;
Eraslan, Serpil;
Girisha, Katta Mohan;
Kennerknecht, Ingo;
Kayserili, Hülya

Publication type:

Article

Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 498, doi. 10.1002/ajmg.a.63050

By:

Kalayci, Tugba;
Altunoglu, Umut;
Çorbacioglu Esmer, Aytul;
Avcı, Şahin;
Sarac Sivrikoz, Tugba;
Karaman, Birsen;
Kalelioğlu, İbrahim;
Has, Recep;
Uyguner, Zehra Oya;
Yüksel, Atıl;
Başaran, Seher;
Kayserili, Hülya

Publication type:

Article

Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2061, doi. 10.1002/ajmg.a.62742

By:

Karakilic‐Ozturan, Esin;
Altunoglu, Umut;
Ozturk, Ayse Pinar;
Kardelen Al, Asli Derya;
Yavas Abali, Zehra;
Avci, Sahin;
Wollnik, Bernd;
Poyrazoglu, Sukran;
Bas, Firdevs;
Uyguner, Zehra Oya;
Kayserili, Hülya;
Darendeliler, Feyza

Publication type:

Article

Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1226, doi. 10.1002/ajmg.a.62602

By:

Çepni, Ece;
Satkın, Nihan Bilge;
Moheb, Lia Abbasi;
Rocha, Maria Eugenia;
Kayserili, Hülya

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

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1681, doi. 10.1002/ajmg.a.61610

By:

Kunz, Felix;
Kayserili, Hülya;
Midro, Alina;
Silva, Deepthi;
Basnayake, Sriyani;
Güven, Yeliz;
Borys, Jan;
Schanze, Denny;
Stellzig‐Eisenhauer, Angelika;
Bloch‐Zupan, Agnes;
Zenker, Martin

Publication type:

Article

Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 123, doi. 10.1002/ajmg.a.60686

By:

Azakli, Hülya;
Akkaya, Ayse Deniz;
Aygün, Murat Serhat;
Demirkesen, Cüyan;
Eraslan, Serpil;
Kayserili, Hülya

Publication type:

Article

An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3282, doi. 10.1002/ajmg.a.37931

By:

Bögershausen, Nina;
Altunoglu, Umut;
Beleggia, Filippo;
Yigit, Gökhan;
Kayserili, Hülya;
Nürnberg, Peter;
Li, Yun;
Altmüller, Janine;
Wollnik, Bernd

Publication type:

Article

Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1391, doi. 10.1002/ajmg.a.37652

By:

Kayserili, Hülya;
Altunoglu, Umut;
Yesil, Gozde;
Rosti, Rasim Özgür

Publication type:

Article

Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 460, doi. 10.1002/ajmg.a.37426

By:

Mansouri, Maria;
Kayserili, Hülya;
Elalaoui, Siham Chafai;
Nishimura, Gen;
Iida, Aritoshi;
Lyahyai, Jaber;
Miyake, Noriko;
Matsumoto, Naomichi;
Sefiani, Abdelaziz;
Ikegawa, Shiro

Publication type:

Article

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2407, doi. 10.1002/ajmg.a.36640

By:

Li, Bing;
Krakow, Deborah;
Nickerson, Deborah A.;
Bamshad, Michael J.;
Chang, Yong;
Lachman, Ralph S.;
Yilmaz, Alev;
Kayserili, Hülya;
Cohn, Daniel H.

Publication type:

Article