New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome

European Journal of Medical Genetics

Volumn 54, Issue 1, 2011, Pages 42-49

  Rosenfeld, Jill A ^a   Lacassie, Yves ^b   El Khechen, Dima ^c   Escobar, Luis F ^c   Reggin, James ^d   Heuer, Carolyn ^e   Chen, Emily ^f   Jenkins, Lauren S ^g   Collins, A Thomas ^h   Zinner, Samuel ⁱ   Babcock, Melanie ^j   Morrow, Bernice ^j   Schultz, Roger A ^a   Torchia, Beth S ^a   Ballif, Blake C ^a   Tsuchiya, Karen D ⁱ   Shaffer, Lisa G ^a  

^a PerkinElmer   (United States)

^b LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c St Vincent Hospital   (United States)

^d SACRED HEART MEDICAL CENTER   (United States)

^e MidSouth Maternal Fetal Medicine   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g KAISER PERMANENTE   (United States)

^h SEATTLE CHILDREN S HOSPITAL   (United States)

ⁱ UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^j ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

more..

Author keywords

DISP1; Mental retardation; Microdeletion; Midline defects

Indexed keywords

SONIC HEDGEHOG PROTEIN;

1Q41Q42 MICRODELETION SYNDROME; ARTICLE; BEHAVIOR DISORDER; BODY DYSMORPHIC DISORDER; CHILD; CHROMOSOME 1Q; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL ARTICLE; CLUBFOOT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DISP1 GENE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRYNS SYNDROME; GENE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTELORISM; HYPOSPADIAS; INFANT; INHERITANCE; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; NYSTAGMUS; OTITIS MEDIA; PRESCHOOL CHILD; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEIZURE; SIGNAL TRANSDUCTION; STRABISMUS; UPPER RESPIRATORY TRACT INFECTION;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HAPLOINSUFFICIENCY; HERNIA, DIAPHRAGMATIC; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; LIMB DEFORMITIES, CONGENITAL; MALE; SYNDROME;

ERINACEIDAE;

EID: 79951953882     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.10.002     Document Type: Article

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