| scholarly article | Q13442814 |
| P2093 | author name string | M Klein | |
| A van Haeringen | |||
| Z A Bhuiyan | |||
| R C M Hennekam | |||
| P Hammond | |||
| I Van Berckelaer-Onnes | |||
| M M A M Mannens | |||
| P2860 | cites work | NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome | Q24293235 |
| Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B | Q24293248 | ||
| Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation | Q24303629 | ||
| de Lange syndrome: a clinical review of 310 individuals | Q24336583 | ||
| De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes | Q33679245 | ||
| NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. | Q33910158 | ||
| Discriminating power of localized three-dimensional facial morphology | Q34137531 | ||
| Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes. | Q34607037 | ||
| Behavioural phenotype of Cornelia de Lange syndrome | Q35264957 | ||
| NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. | Q35444379 | ||
| Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene | Q37277044 | ||
| The Brachmann-de Lange syndrome | Q39831407 | ||
| Brachmann-de Lange syndrome with normal IQ. | Q40806361 | ||
| Mild Brachmann-de Lange syndrome: changes of phenotype with age. | Q41304618 | ||
| Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome | Q41929479 | ||
| Mild de Lange syndrome--does it exist? | Q41929837 | ||
| Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome? | Q41930494 | ||
| Estimating average growth trajectories in shape-space using kernel smoothing. | Q47747639 | ||
| Subgroups in autism: are there behavioural phenotypes typical of underlying medical conditions? | Q48471852 | ||
| On the variability of the Brachmann-de Lange syndrome in seven patients | Q49113445 | ||
| The Developmental Behavior Checklist: the development and validation of an instrument to assess behavioral and emotional disturbance in children and adolescents with mental retardation. | Q50303802 | ||
| Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy. | Q50304764 | ||
| Challenging behaviour: a challenge to change | Q50309348 | ||
| Sixty-four patients with Brachmann-de Lange syndrome: a survey. | Q50584246 | ||
| 3D analysis of facial morphology. | Q51999018 | ||
| Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype. | Q52031936 | ||
| Psychometric properties of the revised Developmental Behaviour Checklist scales in Dutch children with intellectual disability. | Q52123680 | ||
| Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals. | Q52221653 | ||
| Head circumference from birth to eighteen years. Practical composite international and interracial graphs | Q54086134 | ||
| The behavior inventory for rating development (BIRD): assessments of reliability and factorial validity | Q70579736 | ||
| Growth manifestations in the Brachmann-de Lange syndrome | Q72731792 | ||
| Variability of the Brachmann-de Lange syndrome | Q72731838 | ||
| Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome | Q73194611 | ||
| Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome | Q77657288 | ||
| Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome | Q81424578 | ||
| [Growth diagrams for patient care] | Q93666190 | ||
| P433 | issue | 7 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Cornelia de Lange syndrome | Q1133289 |
| patient | Q181600 | ||
| phenotype | Q104053 | ||
| P304 | page(s) | 568-575 | |
| P577 | publication date | 2005-10-19 | |
| P1433 | published in | Journal of Medical Genetics | Q14640281 |
| P1476 | title | Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience | |
| P478 | volume | 43 |
| Q33270740 | A case of Cornelia de Lange syndrome from Sudan |
| Q50307061 | A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder |
| Q39792175 | A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. |
| Q37032469 | A newborn with Cornelia de Lange syndrome: a case report |
| Q64989768 | Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study. |
| Q53058748 | Autism traits in children and adolescents with Cornelia de Lange syndrome. |
| Q30386863 | Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome. |
| Q38997519 | Behavioral and psychiatric manifestations in Cornelia de Lange syndrome |
| Q39042409 | Behaviour in Cornelia de Lange syndrome: a systematic review. |
| Q37776210 | Brachmann–de Lange syndrome: definition of prenatal sonographic features to facilitate definitive prenatal diagnosis |
| Q36444452 | Case Report: Atypical Cornelia de Lange Syndrome |
| Q28238402 | Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation |
| Q36973570 | Cohesin and human disease |
| Q92134631 | Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome |
| Q28274147 | Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients |
| Q58950278 | Congenital malformations |
| Q41818420 | Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation |
| Q55981973 | Cornelia de Lange syndrome |
| Q51813081 | Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation. |
| Q37043811 | Craniofacial characteristics of fragile X syndrome in mouse and man. |
| Q34311125 | Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia. |
| Q50301428 | Delineation of behavioral phenotypes in genetic syndromes: characteristics of autism spectrum disorder, affect and hyperactivity. |
| Q28292640 | Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome |
| Q64446103 | Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement |
| Q38987727 | Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes |
| Q41397172 | Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance. |
| Q50310449 | Face-brain asymmetry in autism spectrum disorders |
| Q38728077 | Facial Curvature Detects and Explicates Ethnic Differences in Effects of Prenatal Alcohol Exposure |
| Q55053027 | Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. |
| Q30536527 | Facial dysmorphism across the fetal alcohol spectrum |
| Q50873095 | Facial expression of affect in children with Cornelia de Lange syndrome. |
| Q41919420 | Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene |
| Q35603630 | Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome |
| Q33907757 | Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome |
| Q28302565 | Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange |
| Q34646686 | Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome |
| Q35056679 | Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes |
| Q24304181 | Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair |
| Q36035735 | Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients |
| Q55137466 | Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome. |
| Q24338354 | Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction |
| Q28285886 | Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome |
| Q27006360 | Large-scale objective phenotyping of 3D facial morphology |
| Q33582763 | Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance |
| Q84656512 | Mental retardation, growth retardation, unusual nose, and open mouth: An autosomal recessive entity |
| Q21563611 | Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance |
| Q24630776 | Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome |
| Q34574663 | Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation |
| Q36886238 | Natural history of aging in Cornelia de Lange syndrome |
| Q37322178 | On the molecular etiology of Cornelia de Lange syndrome |
| Q38129320 | People with intellectual disability: what do we know about adulthood and life expectancy? |
| Q52638327 | Phenotypes and genotypes in individuals with SMC1A variants. |
| Q51905127 | Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL. |
| Q39140500 | Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF. |
| Q35613075 | Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes |
| Q33597406 | Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers |
| Q50341024 | Social anxiety in Cornelia de Lange syndrome |
| Q36542612 | Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome |
| Q38811505 | The face of Glut1-DS patients: A 3D Craniofacial Morphometric Analysis |
| Q84120851 | The face signature of fibrodysplasia ossificans progressiva |
| Q79936120 | The use of 3D face shape modelling in dysmorphology |
| Q51764380 | Three-dimensional face shape in Fabry disease. |
| Q38092763 | Understanding human diseases with high-throughput quantitative measurement and analysis of molecular signatures |
| Q36049645 | Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report. |
Search more.