22Q11. 2 Deletion Syndrome and Complex Congenital Heart Defects
Carlo Pilla
Revista da Associação …, 2011
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Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
Antonio Carlos Pastorino
Arquivos Brasileiros de Cardiologia, 2014
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Novel features of 3q29 deletion syndrome: Results from the 3q29 registry
Michael Zwick
American journal of medical genetics. Part A, 2016
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Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect
Marc Gewillig
Developmental Medicine & Child Neurology, 2005
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22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome
Ankita Patel
The American Journal of Human Genetics, 2008
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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
Candice Silversides
The American Journal of Human Genetics, 2020
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Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
Olivier Vanakker
American Journal of Medical Genetics Part A, 2014
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3Q29 Microdeletion Syndrome Associated with Developmental Delay and Pulmonary Stenosis: A Case Report
Zerrin Celik
Turkish Journal of Pediatrics, 2022
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A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis
Grazia Mancini
American Journal of Medical Genetics Part A, 2013
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A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability
Beata Aleksiuniene
BMC Medical Genomics, 2020
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Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)
Elena Villanueva Perez
Current Opinion in Pediatrics, 2002
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A 9.3Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb
Filomena Papa
European Journal of Medical Genetics, 2009
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22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH
Ankita Patel
American Journal of Medical Genetics Part A, 2010
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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
Ankita Patel
Nature Genetics, 2009
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Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
Zeynep Tumer
American Journal of Medical Genetics Part A, 2006
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Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss
Ankita Patel
European Journal of Human Genetics, 2008
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15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature Review
dominique smeets
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Neuromotor deficits in children with the 22q11 deletion syndrome
Christina Sobin
Movement Disorders, 2006
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A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report
Frances A Flinter
Molecular Cytogenetics, 2009
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The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment
Mauro Pierluigi
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2010
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Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia
jay shubrook
American Journal of Medical Genetics Part A, 2010
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Congenital anomalies including the VATER association in a patient with a del(6)q deletion
U. Francke
The Journal of Pediatrics, 1977
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Dilated cardiomyopathy in a 3-year-old girl with a terminal deletion, 46,XX,del(3)(q27-qter), of the long arm of chromosome 3
Nozomu Sasaki
European journal of pediatrics, 2003
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Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion
Brigitte Benzacken, Julie Désir
American Journal of Medical Genetics Part A, 2015
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A unique presentation of 22q13 deletion syndrome
Dima El-Khechen
Clinical Dysmorphology, 2011
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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome
Amanda Collins
The American Journal of Human Genetics, 2005
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A 2.6Mb deletion of 6q24.3–25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears
Vera Uliana
European Journal of Medical Genetics, 2007
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A de novo 2.3Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl
Monica Stoian
Gene, 2014
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Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
Farah Zahir
Journal of Medical Genetics, 2007
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Molecular aspects of the congenital and acquired Long QT Syndrome: Clinical implications
J Saenen
Journal of Molecular and Cellular Cardiology, 2008
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Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome
C. Verellen-Dumoulin
European Journal of Medical Genetics, 2011
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