Clinical utility gene card for: Wolf-Hirschhorn (4p-) syndrome

被引：11

作者：

Battaglia, Agatino ^{[1
]}

South, Sarah ^{[2
]}

Carey, John C. ^{[2
]}

机构：

[1] Stella Maris Clin Res Inst Child & Adolescent Neu, Dept Dev Neurosci, I-56128 Pisa, Italy

[2] Univ Utah, Dept Pediat, Div Med Genet, Salt Lake City, UT USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2011年 / 19卷 / 04期

关键词：

GENOTYPE-PHENOTYPE CORRELATION; NATURAL-HISTORY; CRITICAL REGION; SYNDROME WHS; SYNDROME EXPERIENCE; FEATURES; TRANSLOCATIONS; PATTERNS; UPDATE; CGH;

D O I：

10.1038/ejhg.2010.186

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：

引用

页码：492 / 492

页数：3

共 21 条

[1]

Battaglia A, 2000, AM J HUM GENET, V67, P127

[2] Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome [J].

Battaglia, A ;

Carey, JC .

BRAIN & DEVELOPMENT, 2005, 27 (05) :362-364

[3]

Battaglia A, 2001, Adv Pediatr, V48, P75

[4]

Battaglia A., 1996, Electroencephalography and Clinical Neurophysiology, V99, P324, DOI 10.1016/0013-4694(96)88347-7

[5] Wolf-Hirschhorn syndrome (WHS): a history in pictures [J].

Battaglia, A ;

Carey, JC ;

Viskochil, DH ;

Cederholm, P ;

Opitz, JM .

CLINICAL DYSMORPHOLOGY, 2000, 9 (01) :25-30

[6] Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases [J].

Battaglia, A ;

Carey, JC ;

Cederholm, P ;

Viskochil, DH ;

Brothman, AR ;

Galasso, C .

PEDIATRICS, 1999, 103 (04) :830-836

[7]

BATTAGLIA A, 1999, PEDIATRICS, V11, P236

[8]

BATTAGLIA A, 2010, MANAGEMENT GENETIC S, P249

[9] Update on the Clinical Features and Natural History of Wolf-Hirschhorn (4p-) Syndrome: Experience With 87 Patients and Recommendations for Routine Health Supervision [J].

Battaglia, Agatino ;

Filippi, Tiziana ;

Carey, John C. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2008, 148C (04) :246-251

[10] Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients [J].

Battaglia, Agatino ;

Filippi, Tiziana ;

South, Sarah T. ;

Carey, John C. .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2009, 51 (05) :373-380

← 1 2 3 →