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List of works by Rachel Honjo

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

article

Abnormal auditory event-related potentials in Williams syndrome

scientific article published in 2021

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

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

scientific article published on 31 July 2012

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

scientific article published on 26 September 2019

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

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

scientific article published on 02 February 2019

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

scientific article published on May 2016

Cognitive and behavioral profile of Williams Syndrome toddlers

scientific article published on 19 July 2018

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

scientific article published on 23 July 2019

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

scientific article

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

scientific article published on 8 October 2015

Cri du Chat syndrome: Characteristics of 73 Brazilian patients.

scientific article published on 20 February 2018

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

scientific article published on 26 June 2015

Dental evaluation of Kabuki syndrome patients

scientific article published on 17 May 2009

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

scientific article

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

scientific article published on 01 August 2018

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

scientific article published on 01 November 2020

Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America

scientific article published on 27 February 2020

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

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

scientific article published on 12 November 2019

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

scientific article published on 04 July 2019

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

scientific article published on 27 May 2019

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

scientific article published on 12 December 2020

Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities

scientific article published on 01 July 2009

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

scientific article

Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection

scientific article published on 02 October 2014

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

scientific article published on 01 September 2015

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

scientific article published on 9 September 2011

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

scientific article published on 02 April 2019

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

scientific article

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

scientific article published on 19 February 2020

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

scientific article published on 16 March 2015

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

scientific article

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

scientific article

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

scientific article published on 31 October 2020

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

scientific article published on 18 June 2019

Proteus syndrome: report of a case with recurrent abdominal lipomatosis

scientific article published on 01 April 2009

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

scientific article published on 9 November 2017

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

scientific article published on 18 December 2012

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

article

Spondylocostal dysostosis associated with methylmalonic aciduria

scientific article

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

scientific article

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

scientific article published on 24 September 2016

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

scientific article published on 01 May 2010

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

scientific article

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

scientific article published on 18 May 2015

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