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Lista de obras de Chong Ae Kim

A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading in-frame deletion

artículo científico publicado en 2021

A DominantABCC8-Related Hyperinsulinism: Familial Case ReportMoreiraet al.ABCC8-Related Hyperinsulinism

artículo científico publicado en 2013

A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin

article

A Novel Mutation in HPRT1 Gene Causing Variant Form of Lesch-Nyhan Disease

article

A Possible Role of Different PTPN Genes in Immune Regulation

article

A clinical follow-up of 35 Brazilian patients with Prader-Willi syndrome

artículo científico publicado en 2012

A clinical study of 77 patients with mucopolysaccharidosis type II

artículo científico publicado en 2007

A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome.

artículo científico publicado en 2011

A duplex allele-specific amplification PCR to detect SMN1 deletion

artículo científico publicado en 2009

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

artículo científico publicado en 2006

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

artículo científico publicado en 2006

A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders.

artículo científico publicado en 2003

AEC Syndrome and CHAND Syndrome: Further Evidence of Clinical Overlapping in the Ectodermal Dysplasias

artículo científico publicado en 2000

Abnormal auditory event-related potentials in Williams syndrome

artículo científico publicado en 2021

Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings

artículo científico publicado en 2013

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

artículo científico publicado en 2007

An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion

artículo científico publicado en 2010

Angiokeratoma: a cutaneous marker of Fabry’s disease

article

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

artículo científico publicado en 2008

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

artículo científico publicado en 2012

Associations between fetal testosterone and pro–social tendencies, anxiety and autistic symptoms in Williams syndrome: a preliminary study

Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.

artículo científico publicado en 2016

Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty

artículo científico publicado en 2012

Audiological characteristics in mucopolysaccharidosis: a systematic literature review

artículo científico publicado en 2019

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

artículo científico publicado en 2012

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

artículo científico publicado en 2017

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

scientific article published on 26 September 2019

Behavioral and cognitive phenotype of children and adolescents with Williams-Beuren Syndrome

artículo científico publicado en 2010

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation

scientific article published on 28 August 2018

Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity

article

Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry

artículo científico publicado en 2019

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

artículo científico publicado en 2018

CD4+CD25highFoxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis

article

CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.

artículo científico publicado en 2005

Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation

artículo científico

Challenges in the orthodontic treatment of a patient with pycnodysostosis

artículo científico publicado en 2013

Characteristics of auditory evaluation in Williams syndrome: a systematic review

scientific article published on 17 September 2018

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

artículo científico publicado en 2018

Chromosome imbalances in syndromic hearing loss

artículo científico publicado en 2009

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

scientific article published on 24 September 2019

Clinical and biochemical studies in mucopolysaccharidosis type II carriers

article

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

scientific article published on 01 September 2004

Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III

artículo científico publicado en 2019

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

scientific article published on 01 February 2007

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.

artículo científico publicado en 2016

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

artículo científico publicado en 2019

Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

artículo científico publicado en 2004

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

artículo científico publicado en 2014

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

artículo científico publicado en 2010

Cockayne syndrome type A: novel mutations in eight typical patients.

artículo científico publicado en 2006

Cognitive and behavioral profile of Williams Syndrome toddlers

scientific article published on 19 July 2018

Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.

artículo científico publicado en 2014

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

scientific article published on 23 July 2019

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion.

artículo científico publicado en 2014

Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy

artículo científico publicado en 1998

Congenital genitourinary abnormalities in children with Williams-Beuren syndrome

artículo científico publicado en 2014

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

artículo científico publicado en 2012

Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome

artículo científico publicado en 2011

Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA".

artículo científico publicado en 2015

Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities

article

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

artículo científico publicado en 2017

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.

artículo científico publicado en 2015

Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications.

artículo científico publicado en 2002

Dental evaluation of Kabuki syndrome patients.

artículo científico publicado en 2009

Dermal melanocytosis associated with GM1-gangliosidosis type 1

scientific article published on 01 January 2006

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.

artículo científico publicado en 2011

DiGeorge Syndrome: a not so rare disease

artículo científico publicado en 2010

Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome

artículo científico publicado en 2018

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases

artículo científico publicado en 2020

Different Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q Trisomy

artículo científico publicado en 2012

Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports

artículo científico publicado en 2013

Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome

artículo científico publicado en 2019

Echocardiographic study of paediatric patients with mucopolysaccharidosis

artículo científico publicado en 2010

Efficient detection of copy-number variations using exome data: batch- and sex-based analyses

artículo científico publicado en 2020

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

artículo científico publicado en 2013

Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.

artículo científico publicado en 2013

Estresse em crianças e adolescentes com Síndrome de Williams-Beuren em idade escolar

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

artículo científico publicado en 2014

Expanding CEP290 mutational spectrum in ciliopathies

artículo científico publicado en 2009

Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma

scientific article published on 03 August 2020

Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia

article by Carla S. D'Angelo et al published 23 December 2009 in American Journal of Medical Genetics

Exuberant juvenile hyaline fibromatosis in two patients

artículo científico publicado en 2006

Fenótipo comportamental de crianças e adolescentes com síndrome de Prader-Willi

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations

scientific article published on 01 April 2004

Further delineation of Char syndrome

artículo científico publicado en 2000

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.

artículo científico publicado en 2009

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

artículo científico publicado en 2007

Further evidence of the importance of RIT1 in Noonan syndrome.

artículo científico publicado en 2014

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

artículo científico publicado en 2017

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

scientific article published on 19 February 2020

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing

artículo científico publicado en 2019

Genetic investigation of patients with tall stature

artículo científico publicado en 2020

Genomic imbalances associated with mullerian aplasia

artículo científico publicado en 2007

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature

artículo científico publicado en 2019

Hematological findings in Noonan syndrome

artículo científico publicado en 2003

Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1

artículo científico publicado en 2019

Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome

artículo científico publicado en 2016

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g

article

Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis

artículo científico publicado en 2004

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

artículo científico publicado en 2012

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome

artículo científico publicado en 2019

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients

artículo científico publicado en 2005

Infantile autism and 47,XYY karyotype

artículo científico publicado en 2009

Insights from the genetic characterization of central precocious puberty associated with multiple anomalies

artículo científico publicado en 2020

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

artículo científico publicado en 2015

Investigation of copy number variation in children with conotruncal heart defects.

artículo científico publicado en 2014

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes

artículo científico publicado en 2014

Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome?

scientific article published on 01 May 1991

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

article

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

artículo científico publicado en 2018

Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection

scientific article published on 02 October 2014

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

artículo científico publicado en 2003

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

artículo científico publicado en 2016

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

artículo científico publicado en 2020

Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome

scientific article published on 10 September 2020

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.

artículo científico publicado en 2009

Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation.

artículo científico publicado en 2004

Mechanisms of ring chromosome formation, ring instability and clinical consequences

artículo científico publicado en 2011

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

artículo científico publicado en 2015

Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects

artículo científico publicado en 2002

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

artículo científico publicado en 2011

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.

artículo científico publicado en 2016

Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder

artículo científico publicado en 2004

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly

artículo científico publicado en 2005

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

scientific article published on 02 April 2019

Mowat-Wilson syndrome: neurological and molecular study in seven patients

artículo científico publicado en 2015

Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene

artículo científico publicado en 2013

Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?

artículo científico publicado en 2008

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

artículo científico publicado en 2010

Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.

artículo científico publicado en 2017

Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement

article

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

artículo científico publicado en 2005

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation

artículo científico publicado en 2020

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB.

artículo científico publicado en 2014

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

artículo científico publicado en 2012

Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries

scientific article published on 16 March 2015

Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report

artículo científico publicado en 2017

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

article

Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients

article

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

artículo científico publicado en 2011

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy

artículo científico publicado en 2014

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

artículo científico publicado en 2012

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

artículo científico publicado en 2004

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

artículo científico publicado en 2004

Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy

artículo científico publicado en 2012

NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene

article

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

artículo científico publicado en 2013

Natural history of 39 patients with Achondroplasia.

artículo científico publicado en 2018

Nephrogenic diabetes insipidus (NDI): clinical, laboratory and genetic characterization of five Brazilian patients.

artículo científico publicado en 2009

Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q.

artículo científico publicado en 1995

Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

article

New insights in mucopolysaccharidosis type VI: neurological perspective.

artículo científico publicado en 2013

Novel CLTC variants cause new brain and kidney phenotypes

artículo científico publicado en 2021

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"

artículo científico publicado en 2018

Nutritional aspects of Noonan syndrome and Noonan-related disorders.

artículo científico publicado en 2016

Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1

article

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants

artículo científico publicado en 2013

Ocular manifestations of Noonan syndrome

artículo científico publicado en 2011

Omodysplasia: the first reported Brazilian case

scientific article published on 01 August 2007

PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype

article

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

artículo científico publicado en 2010

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

artículo científico publicado en 2017

Penile anthropometry in adolescents and adults systemic lupus erythematosus

scholarly article by Ana Paula Vecchi et al published 2011 in Pediatric Rheumatology Online Journal

Penile anthropometry in systemic lupus erythematosus patients.

artículo científico publicado en 2011

Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil

scientific article published on 31 October 2020

Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

artículo científico publicado en 2007

Post-mortem cytogenomic investigations in patients with congenital malformations

artículo científico publicado en 2016

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

artículo científico publicado en 2006

Prevalence of mutations in AGPAT2 among human lipodystrophies

artículo científico publicado en 2003

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant

artículo científico publicado en 2019

Proteus syndrome: report of a case with recurrent abdominal lipomatosis

scientific article published on 01 April 2009

Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.

artículo científico publicado en 2015

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

artículo científico publicado en 2015

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation inFLNAand an atypical paternal phenotype: Insights into genotype-phenotype correlation

artículo científico publicado en 2015

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

artículo científico publicado en 2017

Remote spinal cord injury in mucopolysaccharidosis type IVA after cervical decompression

artículo científico publicado en 2014

Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH).

artículo científico publicado en 2004

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

article

Ring chromosome 10: report on two patients and review of the literature.

artículo científico

Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5Mb deletion in 22q11.2 region

article

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability

artículo científico publicado en 2007

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation inSETBP1and literature review of the clinical features

article

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome

artículo científico publicado en 2011

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

artículo científico publicado en 2016

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

artículo científico publicado en 2013

Spondylocostal dysostosis associated with methylmalonic aciduria

artículo científico publicado en 2009

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.

artículo científico publicado en 2016

Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.

artículo científico publicado en 2016

Síndrome de Berardinelli-Seip: descrição genética e metabólica de cinco pacientes

artículo científico publicado en 2011

Targeted massively parallel sequencing for congenital generalized lipodystrophy

artículo científico publicado en 2020

Tegumentary manifestations of Noonan and Noonan-related syndromes.

artículo científico publicado en 2013

Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros ⬇️

artículo científico publicado el 1 de mayo de 2010

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

artículo científico publicado en 2013

The effects of oxybutynin on urinary symptoms in children with Williams-Beuren syndrome.

artículo científico publicado en 2012

The first cardiac transplant experience in a patient with mucopolysaccharidosis

scientific article published on 06 December 2011

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

artículo científico publicado en 2013

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

artículo científico publicado en 2017

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.

artículo científico publicado en 2010

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.

artículo científico publicado en 2011

Vertical transmission of a frontonasal phenotype caused by a novelALX4mutation

article

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

artículo científico publicado en 2006

Williams Syndrome: development of a new scoring system for clinical diagnosis

artículo científico publicado en 2007

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

artículo científico publicado en 2015

Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization

artículo científico publicado en 2003

Williams-Beuren syndrome: diagnosis by polymorphic markers.

artículo científico publicado en 2010

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