The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

Journal of Human Genetics

Volumn 60, Issue 1, 2015, Pages 1-9

  Ozantürk, Ayşegül ^a   Marshall, Jan D ^b   Collin, Gayle B ^b   Düzenli, Selma ^c   Marshall, Robert P ^d   Candan, Şükrü ^e   Tos, Tülay ^f   Esen, Ihsan ^g   Taşkesen, Mustafa ^h   Çayir, Atilla ⁱ   Öztürk, Şükrü ^j   Üstün, Ihsan ^k   Ataman, Esra ^l   Karaca, Emin ^m   Özdemir, Taha Reşid ^m   Erol, Ilknur ⁿ   Eroʇlu, Fehime Kara ^a   Torun, Deniz ^o   Pariltay, Erhan ^l   Yilmaz Güleç, Elif ^p   Karaca, Ender ^p   Atabek, M Emre ^q   Elçioʇlu, Nursel ^r   Satman, Ilhan ^j   Möller, Claes ^s   Muller, Jean ^t   Naggert, Jürgen K ^b   Özgül, Riza Köksal ^a   more..

^a HACETTEPE UNIVERSITY   (Turkey)

^b JACKSON LABORATORY   (United States)

^c ABANT IZZET BAYSAL UNIVERSITY   (Turkey)

^d Alström Syndrome International   (United States)

^e Ataturk State Hospital   (Turkey)

^f Dr Sami Ulus Maternity and Children's Hospital   (Turkey)

^g ANKARA ONCOLOGY HOSPITAL   (Turkey)

^h DICLE UNIVERSITY   (Turkey)

ⁱ ATATÜRK UNIVERSITY   (Turkey)

^j ISTANBUL UNIVERSITY   (Turkey)

^k MUSTAFA KEMAL UNIVERSITY   (Turkey)

^l EGE UNIVERSITY   (Turkey)

^m Izmir Tepecik Training and Research Hospital   (Turkey)

ⁿ BASKENT UNIVERSITY   (Turkey)

^o GULHANE SCHOOL OF MEDICINE   (Turkey)

^p Kanuni Sultan Suleyman Training and Research Hospital   (Turkey)

^q NECMETTIN ERBAKAN UNIVERSITY   (Turkey)

^r MARMARA UNIVERSITY   (Turkey)

^s ÖREBRO UNIVERSITY HOSPITAL   (Sweden)

^t UNIVERSITÉ DE STRASBOURG   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELISM; ALSTROM SYNDROME; ARTICLE; CHILD; CLINICAL FEATURE; DNA SEQUENCE; FEMALE; GENE ALMS1; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MARKER GENE; NEXT GENERATION SEQUENCING; SEQUENCE ANALYSIS; TURKEY (REPUBLIC); COHORT ANALYSIS; CONSANGUINITY; GENETIC ASSOCIATION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; TURKEY;

ALMS1 PROTEIN, HUMAN; ISOPROTEIN; PROTEIN;

ADOLESCENT; ALSTROM SYNDROME; COHORT STUDIES; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MUTATION; PEDIGREE; PROTEIN ISOFORMS; PROTEINS; TURKEY;

EID: 84922283783     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.85     Document Type: Article

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