Chong Ae Kim investigadora
김종애
Chong, Ae Kim
VIAF ID: 596150323826609972532 (Personal)
Permalink: http://viaf.org/viaf/596150323826609972532
Preferred Forms
- 100 0 _ ‡a Chong Ae Kim ‡c investigadora
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- 100 1 _ ‡a 김종애
- 100 0 _ ‡a 김종애
4xx's: Alternate Name Forms (8)
Works
Title | Sources |
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Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation | |
Contribuicao para o estudo da osteogenese imperfeita aspectos genetico-clinicos de 25 casos | |
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis | |
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? | |
Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection | |
Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency. | |
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus | |
Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome | |
Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation. | |
Mechanisms of ring chromosome formation, ring instability and clinical consequences | |
Menkes disease: importance of diagnosis with molecular analysis in the neonatal period | |
Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects | |
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome. | |
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. | |
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region. | |
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB | |
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder | |
Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines | |
Mowat-Wilson syndrome: neurological and molecular study in seven patients | |
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene | |
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis? | |
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment. | |
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study. | |
Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement | |
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation | |
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. | |
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. | |
Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries | |
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report | |
Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? | |
Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients | |
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy | |
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia | |
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss | |
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome | |
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis | |
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux | |
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. | |
Natural history of 39 patients with Achondroplasia. | |
Nephrogenic diabetes insipidus (NDI): clinical, laboratory and genetic characterization of five Brazilian patients. | |
Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q. | |
Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient | |
New insights in mucopolysaccharidosis type VI: neurological perspective. | |
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene | |
Novel CLTC variants cause new brain and kidney phenotypes | |
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures" | |
Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1 | |
Omodysplasia: the first reported Brazilian case | |
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. | |
Penile anthropometry in systemic lupus erythematosus patients. | |
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil | |
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP | |
Post-mortem cytogenomic investigations in patients with congenital malformations. | |
Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems | |
Prevalence of mutations in AGPAT2 among human lipodystrophies | |
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant | |
Proteus syndrome: report of a case with recurrent abdominal lipomatosis | |
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. | |
Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior. | |
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. | |
Recurrence of frontometaphyseal dysplasia in two sisters with a mutation inFLNAand an atypical paternal phenotype: Insights into genotype-phenotype correlation | |
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. | |
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. | |
Remote spinal cord injury in mucopolysaccharidosis type IVA after cervical decompression | |
Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion ofWNT-4,RAR-gamma, andRXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women | |
Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5Mb deletion in 22q11.2 region | |
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation inSETBP1and literature review of the clinical features | |
Sec. de: Genética na prática pediátrica. 2010 | |
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome | |
Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings | |
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability | |
Síndrome de Berardinelli-Seip: descrição genética e metabólica de cinco pacientes | |
Single-nucleotide polymorphism array-based characterization of ring chromosome 18. | |
Spondylocostal dysostosis associated with methylmalonic aciduria | |
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort. | |
A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders. | |
Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability. | |
Targeted massively parallel sequencing for congenital generalized lipodystrophy | |
Tegumentary manifestations of Noonan and Noonan-related syndromes. | |
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros | |
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. | |
Vertical transmission of a frontonasal phenotype caused by a novelALX4mutation | |
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. | |
Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization | |
Williams-Beuren syndrome: diagnosis by polymorphic markers. | |
Williams Syndrome: development of a new scoring system for clinical diagnosis |