Nursel H Elcioglu

Affiliations

Department of Pediatric Genetics, Marmara University Medical School, Istanbul 34854, Turkey; Eastern Mediterranean University School of Medicine, Cyprus, Mersin 10, Turkey.

Publications (10)

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

American journal of human genetics

Avec: Davut Pehlivan , Yavuz Bayram , Nilay Gunes , Zeynep Coban Akdemir , Anju Shukla , Tatjana Bierhals , Burcu Tabakci , Yavuz Sahin , Alper Gezdirici , Jawid M Fatih , Elif Yilmaz Gulec , Gozde Yesil , Jaya Punetha , Zeynep Ocak , Christopher M Grochowski , Ender Karaca , Hatice Mutlu Albayrak , Periyasamy Radhakrishnan , Haktan Bagis Erdem , Ibrahim Sahin , Timur Yildirim , Ilhan A Bayhan , Aysegul Bursali , Muhsin Elmas , Zafer Yuksel , Ozturk Ozdemir , Fatma Silan , Onur Yildiz , Osman Yesilbas , Sedat Isikay , Burhan Balta , Shen Gu , Shalini N Jhangiani , Harsha Doddapaneni , Jianhong Hu , Donna M Muzny , Auteur inconnu , Eric Boerwinkle , Richard A Gibbs , Konstantinos Tsiakas , Maja Hempel , Katta Mohan Girisha , Davut Gul , Jennifer E Posey , Nursel H Elcioglu , Beyhan Tuysuz , James R Lupski

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Clinical dysmorphology

Avec: Sheela Nampoothiri , Nursel H Elcioglu , Suleyman S Koca , Dhanya Yesodharan , Chandrababu Kk , Vinod Krishnan , Meenakshi Bhat , Mohandas Nair K , Natasha Radhakrishnan , Mahesh Kappanayil , Jayesh J Sheth , Sandra Alves , Francisca Coutinho , Michael J Friez , Richard M Pauli , Sheila Unger , Andrea Superti-Furga , Jules G Leroy , Sara S Cathey

MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.

European journal of medical genetics

Avec: Katharina Khuller , Gökhan Yigit , Carolina Martínez Grijalva , Janine Altmüller , Holger Thiele , Peter Nürnberg , Nursel H Elcioglu , Burcu Yeter , Ute Hehr , Anja Stein , Adela Della Marina , Angela Köninger , Christel Depienne , Frank J Kaiser , Bernd Wollnik , Alma Kuechler

Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.

Molecular syndromology

Avec: Bilge Noyan , Nursel H Elcioglu , Abdellah Tebani , Soumeya Bekri

Management of acute metabolic crisis in TANGO2 deficiency: a case report.

Journal of pediatric endocrinology & metabolism : JPEM

Avec: Emel Yılmaz-Gümüş , Nursel H Elcioglu , Emine Genç , Şule Arıcı , Gülten Öztürk , Özge Yapıcı , Figen Akalın , Burcu Öztürk-Hişmi

TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Avec: Jing-Yi Xue , Zheng Wang , Satoshi Shinagawa , Hirofumi Ohashi , Nao Otomo , Nursel H Elcioglu , Tomoki Nakashima , Gen Nishimura , Shiro Ikegawa , Long Guo

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Journal of intellectual disability research : JIDR

Avec: P A Mulder , I D C van Balkom , A M Landlust , M Priolo , L A Menke , I H Acero , F S Alkuraya , P Arias , L Bernardini , E K Bijlsma , T Cole , C Coubes , I Dapia , S Davies , N Di Donato , N H Elcioglu , J A Fahrner , A Foster , N G González , I Huber , M Iascone , A-S Kaiser , A Kamath , K Kooblall , P Lapunzina , J Liebelt , S A Lynch , S M Maas , C Mammì , I B Mathijssen , S McKee , G M Mirzaa , T Montgomery , D Neubauer , T E Neumann , L Pintomalli , M A Pisanti , A S Plomp , S Price , C Salter , F Santos-Simarro , P Sarda , D Schanze , M Segovia , C Shaw-Smith , S Smithson , M Suri , K Tatton-Brown , J Tenorio , R V Thakker , R M Valdez , A Van Haeringen , J M Van Hagen , M Zenker , M Zollino , W W Dunn , S Piening , R C Hennekam

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.

Journal of medical genetics

Avec: Abdellah Tebani , Bénédicte Sudrié-Arnaud , Ivana Dabaj , Stéphanie Torre , Laur Domitille , Sarah Snanoudj , Benedicte Heron , Thierry Levade , Catherine Caillaud , Sabrina Vergnaud , Pascale Saugier-Veber , Sophie Coutant , Hélène Dranguet , Roseline Froissart , Majed Al Khouri , Yves Alembik , Julien Baruteau , Jean-Baptiste Arnoux , Anais Brassier , Anne-Claire Brehin , Tiffany Busa , Aline Cano , Brigitte Chabrol , Christine Coubes , Isabelle Desguerre , Martine Doco-Fenzy , Bernard Drenou , Nursel H Elcioglu , Solaf Elsayed , Alain Fouilhoux , Céline Poirsier , Alice Goldenberg , Philippe Jouvencel , Alice Kuster , François Labarthe , Leila Lazaro , Samia Pichard , Serge Rivera , Sandrine Roche , Stéphanie Roggerone , Agathe Roubertie , Sabine Sigaudy , Marta Spodenkiewicz , Marine Tardieu , Catherine Vanhulle , Stéphane Marret , Soumeya Bekri

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.

Clinical genetics

Avec: Ipek Ilgin Gönenc , Nursel H Elcioglu , Carolina Martinez Grijalva , Seda Aras , Nadine Großmann , Inka Praulich , Janine Altmüller , Silke Kaulfuß , Yun Li , Peter Nürnberg , Peter Burfeind , Gökhan Yigit , Bernd Wollnik

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

American journal of medical genetics. Part A

Avec: Akçahan Akalın , Ercan Ayaz , Merve Soğukpınar , Enise Avcı-Durmuşalioğlu , Gizem Ürel-Demir , Adalet Elçin Yıldız , Tahir Atik , Nursel H Elcioglu , Gulen Eda Utine , Pelin Özlem Şimşek-Kiper

Réseau de co-auteurs

Gökhan Yigit 2 collaborations

Janine Altmüller 2 collaborations

Peter Nürnberg 2 collaborations

Bernd Wollnik 2 collaborations

Abdellah Tebani 2 collaborations

Soumeya Bekri 2 collaborations

Davut Pehlivan 1 collaboration

Yavuz Bayram 1 collaboration

Nilay Gunes 1 collaboration

Zeynep Coban Akdemir 1 collaboration

Anju Shukla 1 collaboration

Tatjana Bierhals 1 collaboration

Burcu Tabakci 1 collaboration

Yavuz Sahin 1 collaboration

Alper Gezdirici 1 collaboration

Jawid M Fatih 1 collaboration

Elif Yilmaz Gulec 1 collaboration

Gozde Yesil 1 collaboration

Jaya Punetha 1 collaboration

Zeynep Ocak 1 collaboration

Christopher M Grochowski 1 collaboration

Ender Karaca 1 collaboration

Hatice Mutlu Albayrak 1 collaboration

Periyasamy Radhakrishnan 1 collaboration

Haktan Bagis Erdem 1 collaboration

Ibrahim Sahin 1 collaboration

Timur Yildirim 1 collaboration

Ilhan A Bayhan 1 collaboration

Aysegul Bursali 1 collaboration

Muhsin Elmas 1 collaboration

Zafer Yuksel 1 collaboration

Ozturk Ozdemir 1 collaboration

Fatma Silan 1 collaboration

Onur Yildiz 1 collaboration

Osman Yesilbas 1 collaboration

Sedat Isikay 1 collaboration

Burhan Balta 1 collaboration

Shen Gu 1 collaboration

Shalini N Jhangiani 1 collaboration

Harsha Doddapaneni 1 collaboration

Jianhong Hu 1 collaboration

Donna M Muzny 1 collaboration

None None 1 collaboration

Eric Boerwinkle 1 collaboration

Richard A Gibbs 1 collaboration

Konstantinos Tsiakas 1 collaboration

Maja Hempel 1 collaboration

Katta Mohan Girisha 1 collaboration

Davut Gul 1 collaboration

Jennifer E Posey 1 collaboration

Beyhan Tuysuz 1 collaboration

James R Lupski 1 collaboration

Sheela Nampoothiri 1 collaboration

Suleyman S Koca 1 collaboration

Dhanya Yesodharan 1 collaboration

Chandrababu Kk 1 collaboration

Vinod Krishnan 1 collaboration

Meenakshi Bhat 1 collaboration

None Mohandas Nair K 1 collaboration

Natasha Radhakrishnan 1 collaboration

Mahesh Kappanayil 1 collaboration

Jayesh J Sheth 1 collaboration

Sandra Alves 1 collaboration

Francisca Coutinho 1 collaboration

Michael J Friez 1 collaboration

Richard M Pauli 1 collaboration

Sheila Unger 1 collaboration

Andrea Superti-Furga 1 collaboration

Jules G Leroy 1 collaboration

Sara S Cathey 1 collaboration

Katharina Khuller 1 collaboration

Carolina Martínez Grijalva 1 collaboration

Holger Thiele 1 collaboration

Burcu Yeter 1 collaboration

Ute Hehr 1 collaboration

Anja Stein 1 collaboration

Adela Della Marina 1 collaboration

Angela Köninger 1 collaboration

Christel Depienne 1 collaboration

Frank J Kaiser 1 collaboration

Alma Kuechler 1 collaboration

Bilge Noyan 1 collaboration

Emel Yılmaz-Gümüş 1 collaboration

Emine Genç 1 collaboration

Şule Arıcı 1 collaboration

Gülten Öztürk 1 collaboration

Özge Yapıcı 1 collaboration

Figen Akalın 1 collaboration

Burcu Öztürk-Hişmi 1 collaboration

Jing-Yi Xue 1 collaboration

Zheng Wang 1 collaboration

Satoshi Shinagawa 1 collaboration

Hirofumi Ohashi 1 collaboration

Nao Otomo 1 collaboration

Tomoki Nakashima 1 collaboration

Gen Nishimura 1 collaboration

Shiro Ikegawa 1 collaboration

Long Guo 1 collaboration

P A Mulder 1 collaboration

I D C van Balkom 1 collaboration

A M Landlust 1 collaboration

M Priolo 1 collaboration

L A Menke 1 collaboration

I H Acero 1 collaboration

F S Alkuraya 1 collaboration

P Arias 1 collaboration

L Bernardini 1 collaboration

E K Bijlsma 1 collaboration

T Cole 1 collaboration

C Coubes 1 collaboration

I Dapia 1 collaboration

S Davies 1 collaboration

N Di Donato 1 collaboration

N H Elcioglu 1 collaboration

J A Fahrner 1 collaboration

A Foster 1 collaboration

N G González 1 collaboration

I Huber 1 collaboration

M Iascone 1 collaboration

A-S Kaiser 1 collaboration

A Kamath 1 collaboration

K Kooblall 1 collaboration

P Lapunzina 1 collaboration

J Liebelt 1 collaboration

S A Lynch 1 collaboration

S M Maas 1 collaboration

C Mammì 1 collaboration

I B Mathijssen 1 collaboration

S McKee 1 collaboration

G M Mirzaa 1 collaboration

T Montgomery 1 collaboration

D Neubauer 1 collaboration

T E Neumann 1 collaboration

L Pintomalli 1 collaboration

M A Pisanti 1 collaboration

A S Plomp 1 collaboration

S Price 1 collaboration

C Salter 1 collaboration

F Santos-Simarro 1 collaboration

P Sarda 1 collaboration

D Schanze 1 collaboration

M Segovia 1 collaboration

C Shaw-Smith 1 collaboration

S Smithson 1 collaboration

M Suri 1 collaboration

K Tatton-Brown 1 collaboration

J Tenorio 1 collaboration

R V Thakker 1 collaboration

R M Valdez 1 collaboration

A Van Haeringen 1 collaboration

J M Van Hagen 1 collaboration

M Zenker 1 collaboration

M Zollino 1 collaboration

W W Dunn 1 collaboration

S Piening 1 collaboration

R C Hennekam 1 collaboration

Bénédicte Sudrié-Arnaud 1 collaboration

Ivana Dabaj 1 collaboration

Stéphanie Torre 1 collaboration

Laur Domitille 1 collaboration

Sarah Snanoudj 1 collaboration

Benedicte Heron 1 collaboration

Thierry Levade 1 collaboration

Catherine Caillaud 1 collaboration

Sabrina Vergnaud 1 collaboration

Pascale Saugier-Veber 1 collaboration

Sophie Coutant 1 collaboration

Hélène Dranguet 1 collaboration

Roseline Froissart 1 collaboration

Majed Al Khouri 1 collaboration

Yves Alembik 1 collaboration

Julien Baruteau 1 collaboration

Jean-Baptiste Arnoux 1 collaboration

Anais Brassier 1 collaboration

Anne-Claire Brehin 1 collaboration

Tiffany Busa 1 collaboration

Aline Cano 1 collaboration

Brigitte Chabrol 1 collaboration

Christine Coubes 1 collaboration

Isabelle Desguerre 1 collaboration

Martine Doco-Fenzy 1 collaboration

Bernard Drenou 1 collaboration

Solaf Elsayed 1 collaboration

Alain Fouilhoux 1 collaboration

Céline Poirsier 1 collaboration

Alice Goldenberg 1 collaboration

Philippe Jouvencel 1 collaboration

Alice Kuster 1 collaboration

François Labarthe 1 collaboration

Leila Lazaro 1 collaboration

Samia Pichard 1 collaboration

Serge Rivera 1 collaboration

Sandrine Roche 1 collaboration

Stéphanie Roggerone 1 collaboration

Agathe Roubertie 1 collaboration

Sabine Sigaudy 1 collaboration

Marta Spodenkiewicz 1 collaboration

Marine Tardieu 1 collaboration

Catherine Vanhulle 1 collaboration

Stéphane Marret 1 collaboration

Ipek Ilgin Gönenc 1 collaboration

Carolina Martinez Grijalva 1 collaboration

Seda Aras 1 collaboration

Nadine Großmann 1 collaboration

Inka Praulich 1 collaboration

Silke Kaulfuß 1 collaboration

Yun Li 1 collaboration

Peter Burfeind 1 collaboration

Akçahan Akalın 1 collaboration

Ercan Ayaz 1 collaboration

Merve Soğukpınar 1 collaboration

Enise Avcı-Durmuşalioğlu 1 collaboration

Gizem Ürel-Demir 1 collaboration

Adalet Elçin Yıldız 1 collaboration

Tahir Atik 1 collaboration

Gulen Eda Utine 1 collaboration

Pelin Özlem Şimşek-Kiper 1 collaboration