Mutational spectrum and clinical features of EYA1related branchiootorenal syndrome

被引：0

作者：

Borecka, Silvia ^{[1
]}

Varga, Lukas ^{[1
,2
,3
]}

Sklenar, Marek ^{[1
]}

Karhanek, Milos ^{[1
]}

Skopkova, Martina ^{[1
]}

Pavlenkova, Zuzana ^{[1
,2
,3
]}

Radicova, Lenka ^{[2
,4
]}

Profant, Milan ^{[2
,3
]}

Gasperikova, Daniela ^{[1
]}

机构：

[1] Biomed Res Ctr SAS, Inst Expt Endocrinol, Bratislava, Slovakia

[2] Comenius Univ, Med Fac, Bratislava, Slovakia

[3] Univ Hosp Bratislava, Dept Otorhinolaryngol Head & Neck Surg, Bratislava, Slovakia

[4] Natl Inst Childrens Dis, Clin Pediat Otorhinolaryngol, Bratislava, Slovakia

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P03.025.A

引用

页码：379 / 379

页数：1

共 50 条

[31] Clinical and Mutational Spectrum of Neurofibromatosis Type 1-like Syndrome (vol 302, pg 2111, 2009)
Messiaen, Ludwine
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2010, 303 (24): : 2477 - 2477
[32] Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report
Bravo-Gil, Nereida
Marcos, Irene
Gonzalez-Meneses, Antonio
Antinolo, Guillermo
Borrego, Salud
MEDICINE, 2019, 98 (10)
[33] Branchio-Oto-Renal syndrome:: The mutation spectrum in EYA1 and its phenotypic consequences
Chang, EH
Menezes, M
Meyer, NC
Cucci, RA
Vervoort, VS
Schwartz, CE
Smith, RJH
HUMAN MUTATION, 2004, 23 (06) : 582 - 589
[34] Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome
Piras, Roberta
Chiappe, Francesca
La Torraca, Ilaria
Buers, Insa
Usala, Gianluca
Angius, Andrea
Akin, Mustafa Ali
Basel-Vanagaite, Lina
Benedicenti, Francesco
Chiodin, Elisabetta
El Assy, Osama
Feingold-Zadok, Michal
Guibert, Javier
Kamien, Benjamin
Kasapkara, Cigdem Seher
Kilic, Esra
Boduroglu, Koray
Kurtoglu, Selim
Manzur, Adnan Y.
Onal, Eray Esra
Paderi, Enrica
Herrero Roche, Carmen
Tumer, Leyla
Unal, Sezin
Utine, Guelen Eda
Zanda, Giovanni
Zankl, Andreas
Zampino, Giuseppe
Crisponi, Giangiorgio
Crisponi, Laura
Rutsch, Frank
HUMAN MUTATION, 2014, 35 (04) : 424 - 433
[35] Branchio-oto-renal syndrome (BOR):: Novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR
Orten, Dana J.
Fischer, Stephanie M.
Sorensen, Jessica L.
Radhakrishna, Uppala
Cremers, Cor W. R. J.
Marres, Henri A. M.
Van Camp, Guy
Welch, Katherine O.
Smith, Richard J. H.
Kimberling, William J.
HUMAN MUTATION, 2008, 29 (04) : 537 - 544
[36] Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia
Kistol, Denis
Tsygankova, Polina
Krylova, Tatiana
Bychkov, Igor
Itkis, Yulia
Nikolaeva, Ekaterina
Mikhailova, Svetlana
Sumina, Maria
Pechatnikova, Natalia
Kurbatov, Sergey
Bostanova, Fatima
Migiaev, Ochir
Zakharova, Ekaterina
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (02)
[37] Hunter syndrome in northern India: Clinical features and mutation spectrum
Dhanya Lakshmi Narayanan
Priyanka Srivastava
Kausik Mandal
Poonam Singh Gambhir
Shubha R. Phadke
Indian Pediatrics, 2016, 53 : 134 - 136
[38] Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum
Narayanan, Dhanya Lakshmi
Srivastava, Priyanka
Mandal, Kausik
Gambhir, Poonam Singh
Phadke, Shubha R.
INDIAN PEDIATRICS, 2016, 53 (02) : 134 - 136
[39] Familial Transmission of Oculoauriculovertebral Spectrum (Goldenhar Syndrome) Is Not Due to Mutations in Either EYA1 or SALL1
Goodin, Kara
Prucka, Sandra
Woolley, Audie L.
Kohlhase, Juergen
Smith, Richard J. H.
Grant, John
Robin, Nathaniel H.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (03) : 535 - 538
[40] Clinical and Molecular Features of Joubert syndrome and Related Disorders
Parisi, Melissa A.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2009, 151C (04) : 326 - 340

← 1 2 3 4 5 →