Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2139-2151

  Strehle, Eugen Matthias ^a   Yu, Linbo ^b   Rosenfeld, Jill A ^c   Donkervoort, Sandra ^b   Zhou, Yulin ^b,d   Chen, Tian Jian ^e   Martinez, Jose E ^e   Fan, Yao Shan ^f   Barbouth, Deborah ^f   Zhu, Hongbo ^f   Vaglio, Alicia ^g   Smith, Rosemarie ^h   Stevens, Cathy A ⁱ   Curry, Cynthia J ^j   Ladda, Roger L ^k   Fan, Zheng Jane ^l   Fox, Joyce E ^m   Martin, Judith A ⁿ   Abdel Hamid, Hoda Z ^o   McCracken, Elizabeth A ^o   McGillivray, Barbara C ^p   Masser Frye, Diane ^q   Huang, Taosheng ^b,r   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c PerkinElmer   (United States)

^d The Prenatal Diagnostic Center   (China)

^e UNIVERSITY OF SOUTH ALABAMA COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^g Hospital Italiano Montevideo   (Uruguay)

^h Maine Medical Partners   (United States)

ⁱ TC Thompson Children's Hospital   (United States)

^j Genetic Medicine Central California   (United States)

^k PENN STATE CHILDREN S HOSPITAL   (United States)

^l UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^m Northwell Health   (United States)

ⁿ Inland Northwest Genetics Clinic   (United States)

^o CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^p UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^q RADY CHILDREN'S HOSPITAL   (United States)

^r UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

4q deletion syndrome; Comparative genomic hybridization; Fluorescent in situ hybridization; Genotype phenotype correlation; Molecular genetic analysis

Indexed keywords

BONE SIALOPROTEIN; DENTIN MATRIX PROTEIN 1; FIBROBLAST GROWTH FACTOR 2; MITOGEN ACTIVATED PROTEIN KINASE 10; NEUROGENIN 2; OSTEOGENIN; POLYCYSTIN 2; TRANSCRIPTION FACTOR PITX2;

ADOLESCENT; ADULT; ANK2 GENE; ARTICLE; BMP3 GENE; CHILD; CHROMOSOME 4Q DELETION SYNDROME; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; DMP1 GENE; DUX4 GENE; FACE MALFORMATION; FEMALE; FGF2 GENE; GENE; GENE LOCATION; GENE MAPPING; GENETIC ASSOCIATION; GENOME SIZE; GENOTYPE PHENOTYPE CORRELATION; GRID2 GENE; HAND2 GENE; HUMAN; IBSP GENE; INFANT; MALE; MAPK10 GENE; MICROARRAY ANALYSIS; NEUROG2 GENE; NEWBORN; OROFACIAL CLEFT; PITX2 GENE; PKD2 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEC31A GENE; SPARCL1 GENE;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; PHENOTYPE; SYNDROME;

EID: 84865541166     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35502     Document Type: Article

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