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Frontiers in Pediatrics, ISSN 2296-2360, 2018, Volume 6, p. 116
Background: Congenital diaphragmatic hernia (CDH) is a rare defect of the diaphragm commonly associated with high morbidity and mortality due to lung... 
Beckwith-Wiedemann syndrome | Congenital diaphragmatic hernia | Methylation status | Partial trisomy | 11p15 duplication | CDH | De novo | BWS | BECKWITH-WIEDEMANN-SYNDROME | ANOMALIES | de novo | methylation status | congenital diaphragmatic hernia | PEDIATRICS | partial trisomy | Hernia | Genetic aspects | Research | Diaphragm | Chromosomes
Journal Article
Journal Article
Urology, ISSN 0090-4295, 2016, Volume 100, pp. 224 - 227
Abstract Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder with various congenital anomalies. Although the most classic constellation includes... 
Urology | PATERNAL DUPLICATION | UROLOGY & NEPHROLOGY | DIAGNOSIS | TRISOMY 11P15 | DELETION | Beckwith-Wiedemann syndrome | Medical research | Genetic disorders | Medicine, Experimental | Diagnosis | Children | Methylation | Health aspects | Genes
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 06/2010, Volume 152, Issue 6, pp. 1484 - 1487
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2015, Volume 6, Issue 3, pp. 147 - 151
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 opposite growth-affecting disorders. The common molecular cause for both syndromes is... 
Case Report | 11p15 imprinting disorders | Beckwith-Wiedemann syndrome | Imprinting control region 2 | Imprinting control region 1 | 11p15 duplication | Silver-Russell syndrome
Journal Article
Journal Article
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 1/2012, Volume 21, Issue 1, pp. 10 - 25
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/1997, Volume 34, Issue 10, pp. 819 - 826
We present a three generation family in which a father and son have a balanced chromosome translocation between the short arms of chromosomes 5 and 11... 
11p trisomy | Beckwith-Wiedemann syndrome | IGF2 | duplication 11p | CLINICAL-FEATURES | FACTOR-II GENE | WILMS-TUMOR | K KM GENETICS & HEREDITY | REGION | H19 | TRISOMY 11P15 | GENETICS & HEREDITY | CHAT-SYNDROME | CHROMOSOME-11 | EXPRESSION
Journal Article