scholarly article | Q13442814 |
P2093 | author name string | Fernanda S Jehee | |
Mariana L de Freitas | |||
Juliana F Mazzeu | |||
Rejane A C Monteiro | |||
Joziele de S Lima | |||
Paula F V Medeiros | |||
Gabrielle S Vianna | |||
Giovana da C César | |||
Luana C A Ferreira | |||
Michele da S Gonçalves | |||
Patrícia P O Rocha | |||
Rafaella X Pietra | |||
Valdirene T de Oliveira | |||
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The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges | Q26738380 | ||
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Further delineation of the chromosome 14q terminal deletion syndrome | Q28214580 | ||
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations | Q29030218 | ||
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data | Q30849515 | ||
A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype | Q31073050 | ||
Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation | Q33575502 | ||
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients | Q34328088 | ||
15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features | Q34393671 | ||
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients | Q34612125 | ||
Investigation of copy number variation in children with conotruncal heart defects. | Q35292463 | ||
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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations | Q35756546 | ||
New Genetic Insights into Congenital Heart Disease | Q36106143 | ||
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field. | Q36474980 | ||
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease | Q37432642 | ||
Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders | Q37703015 | ||
Genetics and genetic testing in congenital heart disease | Q38515666 | ||
Genetics of congenital heart disease | Q41451951 | ||
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients | Q41570686 | ||
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion | Q41938551 | ||
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Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms | Q42217484 | ||
Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development | Q48318063 | ||
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. | Q50312488 | ||
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. | Q51806375 | ||
Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis. | Q51852307 | ||
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Associations between chromosomal anomalies and congenital heart defects: a database search. | Q52177233 | ||
A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome. | Q53175073 | ||
A phenotype map for 14q32.3 terminal deletions. | Q53655457 | ||
Rapid detection of aneuploidy and unbalanced chromosomal rearrangements by subtelomeric multiplex ligation-dependent probe amplification in fetuses with congenital heart disease. | Q54255025 | ||
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1. | Q54531000 | ||
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects. | Q55166864 | ||
The ring 14 syndrome: Clinical and molecular definition | Q55982585 | ||
Array comparative genomic hybridisation testing in CHD | Q57603139 | ||
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients | Q57807080 | ||
Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart Syndrome | Q57828161 | ||
Child with multiple congenital anomalies and mosaicism 46, XX/46,XX, del (14)(q32.3) | Q67986222 | ||
P433 | issue | 5 | |
P921 | main subject | congenital heart disease | Q939364 |
P304 | page(s) | 227-235 | |
P577 | publication date | 2017-06-14 | |
P1433 | published in | Molecular syndromology | Q26842514 |
P1476 | title | Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test | |
P478 | volume | 8 |
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