| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1100623051 |
| P356 | DOI | 10.1186/S13039-018-0356-6 |
| P932 | PMC publication ID | 5784682 |
| P698 | PubMed publication ID | 29416564 |
| P50 | author | Dilek Colak | Q56773043 |
| Namik Kaya | Q87723202 | ||
| P2093 | author name string | Salma Wakil | |
| Brynn Levy | |||
| Zuhair N Al-Hassnan | |||
| Mustafa A Salih | |||
| Osama M Mustafa | |||
| Maysoon Alsagob | |||
| Majid Al-Fayyadh | |||
| Saeed M Hassan | |||
| Mansour Aljoufan | |||
| Zarghuna M A Shinwari | |||
| Albandary AlBakheet | |||
| Faten Almutairi | |||
| Laila AlQuait | |||
| Rawan AlMass | |||
| Balsam AlMaarik | |||
| Hana A Al-Hakami | |||
| Osima Al-Nakhli | |||
| Waad Albawardi | |||
| P2860 | cites work | Exome sequencing identifies the cause of a mendelian disorder | Q24607742 |
| DHODH modulates transcriptional elongation in the neural crest and melanoma | Q24629043 | ||
| Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis | Q27013736 | ||
| A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum | Q28236613 | ||
| Deletion of chromosome 3q proximal region gives rise to a variable phenotype | Q28273897 | ||
| Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome | Q28297013 | ||
| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies | Q28752220 | ||
| The incidence of congenital heart disease | Q29614195 | ||
| A copy number variation morbidity map of developmental delay | Q29616033 | ||
| Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S | Q30657030 | ||
| 12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments | Q33364019 | ||
| Adult expression of a 3q13.31 microdeletion | Q33617380 | ||
| A case of de novo interstitial deletion 3q | Q33674918 | ||
| Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities | Q33708603 | ||
| Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome | Q33904782 | ||
| An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. | Q34208328 | ||
| A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion | Q34328560 | ||
| Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. | Q34542269 | ||
| Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3. | Q34559760 | ||
| Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients | Q34612125 | ||
| Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes | Q34873887 | ||
| Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome | Q35534016 | ||
| A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features | Q35682160 | ||
| A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report | Q35704189 | ||
| BRAF gene: From human cancers to developmental syndromes | Q35802430 | ||
| Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death | Q36018457 | ||
| Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum | Q36587439 | ||
| A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures | Q36627230 | ||
| Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features | Q36746454 | ||
| Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia | Q36829213 | ||
| The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome | Q36943643 | ||
| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. | Q37640927 | ||
| The challenge of congenital heart disease worldwide: epidemiologic and demographic facts | Q37716189 | ||
| Array CGH as a first-tier test for neonates with congenital heart disease | Q38160092 | ||
| Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease | Q38359413 | ||
| A rare 3q13.31 microdeletion including GAP43 and LSAMP genes | Q39024204 | ||
| The emerging microduplication 3q13.31: Expanding the genotype-phenotype correlations of the reciprocal microdeletion 3q13.31 syndrome. | Q39446139 | ||
| Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly | Q40106100 | ||
| Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A. | Q41928107 | ||
| Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies | Q42779898 | ||
| Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene | Q43074518 | ||
| A novel X-linked disorder with developmental delay and autistic features | Q43737132 | ||
| Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability | Q43933634 | ||
| Alu-related 5q35 microdeletions in Sotos syndrome | Q44178903 | ||
| Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication | Q45751096 | ||
| Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia | Q46368536 | ||
| Genetic testing practices in infants with congenital heart disease | Q46505593 | ||
| Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech | Q48176836 | ||
| MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. | Q48524667 | ||
| Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features | Q50313289 | ||
| Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. | Q50753758 | ||
| Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations. | Q50773467 | ||
| Cleft Lip and Palate in a Patient with 5q35.2-q35.3 Microdeletion: The Importance of Chromosomal Microarray Testing in the Craniofacial Clinic. | Q51350898 | ||
| MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. | Q51910339 | ||
| Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q. | Q51916101 | ||
| De novo 5q35.5 duplication with clinical presentation of Sotos syndrome. | Q52617345 | ||
| Loss of heterozygosity on chromosome arm 16q in breast cancer metastases | Q53442135 | ||
| 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. | Q54060427 | ||
| Congenital Heart Defects in Europe: Prevalence and Perinatal Mortality, 2000 to 2005 | Q57077337 | ||
| A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novoSOX5deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features | Q57083777 | ||
| Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21) | Q67696232 | ||
| Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome | Q69870516 | ||
| Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray | Q81319785 | ||
| Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person | Q84745231 | ||
| Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways | Q85175198 | ||
| Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridization in fetuses with congenital heart disease | Q86923931 | ||
| The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? | Q87196000 | ||
| P304 | page(s) | 9 | |
| P577 | publication date | 2018-01-25 | |
| P1433 | published in | Molecular Cytogenetics | Q15761790 |
| P1476 | title | Identification of novel genomic imbalances in Saudi patients with congenital heart disease | |
| P478 | volume | 11 |
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