D. Bertola

发表

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Bruce D Gelb, Andrew Crosby, Han G Brunner, 2002, American journal of human genetics.

PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

J. Krieger, A. Pereira, C. Kim, 2006, Genetic testing.

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Long Guo, A. Takata, C. Kim, 2020, Human mutation.

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

Débora Romeo Bertola, Ana Beatriz Alvarez Perez, C. Kim, 2013, American journal of medical genetics. Part A.

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

A. Takata, C. Kim, N. Matsumoto, 2019, Journal of Human Genetics.

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

Gabriela A. Vasques, C. Kim, A. Dauber, 2019, The Journal of pediatrics.

Wiedemann–Rautenstrauch syndrome: A phenotype analysis

R. Hennekam, M. Tartaglia, B. Wollnik, 2017, American journal of medical genetics. Part A.

Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant

C. Kim, G. Yamamoto, D. Bertola, 2021, American journal of medical genetics. Part A.

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

A. Pereira, M. Passos-Bueno, C. Kim, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

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

C. Kim, G. Yamamoto, D. Bertola, 2019, Hormone Research in Paediatrics.

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp

K. Gripp, D. Bartholomew, D. Bertola, 2017, American journal of medical genetics. Part A.

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

M. Passos-Bueno, C. Kim, G. Yamamoto, 2017, American journal of medical genetics. Part A.

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

C. Kim, D. Bertola, R. Honjo, 2015, BioMed research international.

Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma

C. Kim, C. Rosenberg, D. Bertola, 2020, Pediatric blood & cancer.

Growth standards of patients with Noonan and Noonan‐like syndromes with mutations in the RAS/MAPK pathway

A. Pereira, A. Jorge, B. Mendonca, 2012, American journal of medical genetics. Part A.

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

José Eduardo Krieger, Débora Romeo Bertola, Alexandre C Pereira, 2010, Arquivos brasileiros de endocrinologia e metabologia.

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

J. Krieger, B. Gelb, C. Kim, 2005, American journal of medical genetics. Part A.

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

J. Krieger, A. Pereira, C. Kim, 2010, Genetic testing and molecular biomarkers.

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

H. van Bokhoven, H. Scheffer, R. Meijer, 2004, Clinical genetics.

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

J. Krieger, A. Pereira, C. Kim, 2004, American journal of medical genetics. Part A.

Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases

C. Kim, V. Aiello, D. Bertola, 2021, American journal of medical genetics. Part A.

Development of a comprehensive noninvasive prenatal test

M. Passos-Bueno, M. Zatz, E. Bakker, 2018, Genetics and molecular biology.

Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation

M. Passos-Bueno, C. Kim, D. Bertola, 2013, American journal of medical genetics. Part A.

Genotype and phenotype spectrum of NRAS germline variants

H. Cavé, M. Ahmadian, M. Tartaglia, 2017, European Journal of Human Genetics.

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

J. Krieger, A. Pereira, C. Kim, 2007, Journal of Human Genetics.

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

R. Lifton, M. Passos-Bueno, S. Twigg, 2021, Journal of Medical Genetics.

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients

M. Maschietto, D. Carraro, I. Cunha, 2020, Frontiers in Oncology.

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

C. Kim, A. Jorge, J. Carvalho, 2012, American journal of medical genetics. Part A.

A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.

Michael P. Brown, P. Ferguson, K. Schooley, 2011, Arthritis and rheumatism.

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

Gabriela A. Vasques, C. Kim, A. Dauber, 2019, Hormone Research in Paediatrics.

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes

K. Metze, N. Sobreira, D. Cavalcanti, 2016, American journal of medical genetics. Part A.

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

J. Vermeesch, M. Passos-Bueno, C. Kim, 2007, American journal of medical genetics. Part A.

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

S. O’Rahilly, M. Lathrop, C. Kim, 2008, The Journal of clinical endocrinology and metabolism.

Genetic contribution for non‐syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies

D. Bueno, M. Passos-Bueno, L. Brito, 2011, American journal of medical genetics. Part A.

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

C. López-Otín, R. Hennekam, G. Velasco, 2018, Journal of Medical Genetics.

Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

M. Passos-Bueno, M. Zatz, K. Griesi-Oliveira, 2016 .

Targeted massively parallel sequencing for congenital generalized lipodystrophy

C. Kim, M. Teles, A. Lerário, 2020, Archives of endocrinology and metabolism.

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

C. Kim, J. Mazzeu, A. Vianna-Morgante, 2011, American journal of medical genetics. Part A.

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

J. Lupski, R. Gibbs, D. Muzny, 2022, Human mutation.

Microdeletion 11q13.1.q13.2 in a patient presenting with developmental delay, facial dysmorphism, and esophageal atresia: possible role of the GSTP1 gene in esophagus malformation.

D. Bertola, Tatiana Lourençoni Ferreira de Almeida, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

J. Lupski, R. Gibbs, S. Jhangiani, 2022, HGG advances.

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry

C. Kim, G. Yamamoto, D. Bertola, 2022, American journal of medical genetics. Part A.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

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

J. Krieger, A. Pereira, C. Kim, 2012, American journal of medical genetics. Part A.

Further delineation of Char syndrome

D. Bertola, L. Albano, S. Sugayama, 2000, Pediatrics international : official journal of the Japan Pediatric Society.

Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

C. Kim, M. Warman, P. Nürnberg, 2019, American journal of human genetics.

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

G. Mortier, P. Dollé, D. Rifkin, 2015, Human molecular genetics.

brachyolmia with amelogenesis imperfecta

G. Mortier, P. Dollé, D. Rifkin, 2015 .

Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity

D. Bertola, L. Albano, R. Honjo, 2009, American journal of medical genetics. Part A.

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

A. Singleton, K. Fischbeck, A. Vanderver, 2019, American journal of human genetics.

Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys

A. Jorge, D. Bertola, R. M. Noronha, 2022, Hormone Research in Paediatrics.

Noonan syndrome: a clinical and genetic study of 31 patients.

D. Bertola, L. Albano, S. Sugayama, 1999, Revista do Hospital das Clinicas.

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

J. Krieger, C. Kim, D. Bertola, 2001, American journal of medical genetics.

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

C. Kim, Tatiana Ferreira de Almeida, D. Bertola, 2012, Clinics.

Additional thoughts about juvenile hyaline fibromatosis and infantile systemic hyalinosis.

R. Denadai, D. Bertola, R. Stelini, 2012, Advances in anatomic pathology.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

D. Sillence, S. Robertson, R. Hennekam, 2017, American Journal of Medical Genetics. Part A.

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.

C. Kim, D. Bertola, M. Varela, 2006, European journal of medical genetics.

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics

C. Kim, N. Matsumoto, N. Miyake, 2021, American journal of medical genetics. Part A.

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

M. Passos-Bueno, C. Kim, D. Bertola, 2010, American journal of medical genetics. Part A.

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

A. Takata, C. Kim, N. Matsumoto, 2019, Journal of Human Genetics.

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

M. Passos-Bueno, G. Yamamoto, D. Bertola, 2011, American journal of medical genetics. Part A.

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.

M. Passos-Bueno, C. Kim, F. Jehee, 2011, European journal of medical genetics.

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

C. Kim, D. Bertola, R. Honjo, 2011, Clinics.

Ocular manifestations of Noonan syndrome

A. Pereira, D. Bertola, I. Furquim, 2012, Ophthalmic genetics.

A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin.

C. Kim, W. Van Hul, D. Bertola, 2008, Genetic testing.

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

C. Rosenberg, I. Arnhold, D. Bertola, 2014, European journal of endocrinology.

An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion

J. Mazzeu, A. Vianna-Morgante, P. Otto, 2010, Molecular Syndromology.

Cardiac findings in 31 patients with Noonan's syndrome.

D. Bertola, L. Albano, S. Sugayama, 2000, Arquivos brasileiros de cardiologia.

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

R. Denadai, D. Bertola, N. Alonso, 2012, American journal of medical genetics. Part A.

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

A. Takata, C. Kim, N. Matsumoto, 2019, Journal of Human Genetics.

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.

M. Passos-Bueno, C. Kim, A. Vianna-Morgante, 2022, Journal of autism and developmental disorders.

Hematological findings in Noonan syndrome.

C. Kim, J. Carneiro, D. Bertola, 2003, Revista do Hospital das Clinicas.

Cockayne syndrome type A: novel mutations in eight typical patients

R. Hegele, C. Kim, H. Cao, 2006, Journal of Human Genetics.

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

O. Mäkitie, C. Kim, K. Wierenga, 2019, Bone.

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

C. Kim, D. Bertola, R. Honjo, 2019, Skeletal Radiology.

Genetics and genomics in Brazil: a promising future

M. Passos-Bueno, D. Horovitz, L. Brito, 2014, Molecular genetics & genomic medicine.

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

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

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

D. Bertola, L. Albano, D. R. Bertola, 2000, Pediatric dermatology.

CHILD Syndrome Caused by a Deletion of Exons 6–8 of the NSDHL Gene

K. Grzeschik, R. Happle, C. Kim, 2005, Dermatology.

Tegumentary manifestations of Noonan and Noonan-related syndromes

A. Pereira, C. Kim, Tatiana Ferreira de Almeida, 2013, Clinics.

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

D. Bertola, R. Honjo, G. Leal, 2016, Genetics and molecular research : GMR.

Infantile sialic acid storage disease: report of the first case in South America.

R. Giugliani, D. Bertola, E. Lewis, 1999, Clinical genetics.

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

A. Pereira, M. Passos-Bueno, M. Zatz, 2015, Journal of Medical Genetics.

Further evidence of the importance of RIT1 in Noonan syndrome

M. Passos-Bueno, C. Kim, G. Yamamoto, 2014, American journal of medical genetics. Part A.

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface

B. Foster, F. Nociti, M. Santamaria, 2022, International journal of molecular sciences.

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

Hyung-Goo Kim, W. Wenzel, C. Kim, 2016, Genes.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

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

C. Kim, C. Lourenço, P. Otto, 2018, Molecular Cytogenetics.

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

C. Lourenço, D. Bertola, M. Varela, 2014, Molecular Cytogenetics.

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

M. Brown, S. Robertson, T. Strom, 2016, American journal of human genetics.

Spondylocostal dysostosis associated with methylmalonic aciduria.

S. Ellard, C. Kim, D. Bertola, 2009, Genetic testing and molecular biomarkers.

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population

D. Bueno, M. Passos-Bueno, D. Meyer, 2012, American journal of medical genetics. Part A.

Heterozygous Mutations of FREM 1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

J. Veltman, K. Sekiguchi, M. Passos-Bueno, 2019 .

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

L. Vissers, J. Veltman, K. Sekiguchi, 2011, PLoS genetics.

Title Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

J. Veltman, K. Sekiguchi, M. Passos-Bueno, 2022 .

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

C. Kim, C. G. Matas, D. Bertola, 2021, Clinics.

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome

M. Passos-Bueno, R. Zechi-Ceide, A. Richieri‐Costa, 2017, Human molecular genetics.

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

C. Kim, D. Bertola, R. Honjo, 2015, BioMed research international.

Chromosomal microarray analyses from 5,778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

P. Pearson, A. Vianna-Morgante, M. Migliavacca, 2022, medRxiv.

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

Bruna L. Freire, Rosimeire A. Roela, C. Kim, 2017, Hormone Research in Paediatrics.

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

W. Sloos, M. Passos-Bueno, P. Pearson, 2006, Cytogenetic and Genome Research.

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

J. Lupski, J. Eisfeldt, A. Lindstrand, 2021, Frontiers in Genetics.

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

D. Valle, K. Doheny, C. Ladd-Acosta, 2017, European Journal of Human Genetics.

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

C. Kim, F. Jehee, D. Bertola, 2012, BMC Research Notes.

Congenital Adrenal Hyperplasia, Ovarian Failure and Ehlers-Danlos Syndrome due to a 6p Deletion

M. I. Melaragno, M. Moyses-Oliveira, D. Bertola, 2014, Sexual Development.

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

Renan Valieris, A. Vianna-Morgante, S. Ezquina, 2018, The application of clinical genetics.

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

C. Kim, C. Lourenço, P. Otto, 2018, Molecular Cytogenetics.

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

C. Kim, C. Lourenço, D. Bertola, 2014, Molecular Cytogenetics.

Two novel pathogenic variants in MED13L: one familial and one isolated case.

C. Rosenberg, D. Bertola, I. T. da Silva, 2021, Journal of intellectual disability research : JIDR.

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5′UTR of EFNB1

M. Passos-Bueno, S. Twigg, C. M. Musso, 2018, Molecular Syndromology.

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

C. Kim, A. Vianna-Morgante, P. Otto, 2013, BMC Medical Genetics.

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.

M. Passos-Bueno, C. Kim, G. Yamamoto, 2014, American journal of human genetics.

Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation

D. Valle, N. Sobreira, J. Christodoulou, 2019, bioRxiv.

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool

C. Kim, D. Bertola, R. Honjo, 2020, Arquivos de Neuro-Psiquiatria.

Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy

T. Magalhães, M. Passos-Bueno, K. Griesi-Oliveira, 2014, PloS one.

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

P. Pearson, A. Vianna-Morgante, E. Bijlsma, 2010, Epilepsia.

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 genome hybridisation

M. Passos-Bueno, C. Kim, F. Jehee, 2008, Journal of Medical Genetics.

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

C. Kim, D. Bertola, I. Kohl, 2010, American journal of medical genetics. Part A.

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

Gabriela A. Vasques, Y. Duarte, M. Naslavsky, 2018, The Journal of clinical endocrinology and metabolism.

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

A. Takata, C. Kim, N. Matsumoto, 2019, Journal of Human Genetics.

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.

C. Kim, J. A. da Paz, D. Bertola, 2006, European journal of medical genetics.

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

D. Bertola, R. Falzoni, U. Tannuri, 2012, Clinical genetics.

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms

M. Passos-Bueno, C. Kim, G. Yamamoto, 2021, Clinical genetics.

Nutritional aspects of Noonan syndrome and Noonan‐related disorders

C. Kim, G. Yamamoto, A. Jorge, 2016, American journal of medical genetics. Part A.

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

M. Passos-Bueno, M. Zatz, Siulan Vendramini-Pittoli, 2017, American journal of medical genetics. Part A.

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

C. Kim, D. Bertola, R. Honjo, 2015, Molecular Cytogenetics.

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum

M. Passos-Bueno, G. Yamamoto, E. Wakeling, 2018, Clinical genetics.

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

M. Passos-Bueno, S. Twigg, A. Wilkie, 2014, American journal of human genetics.

Clinical and laboratorial study of 19 cases of mucopolysaccharidoses.

R. Giugliani, D. Bertola, L. Albano, 2000, Revista do Hospital das Clinicas.

Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).

R. Giugliani, D. Bertola, S. Leistner-Segal, 2012, JIMD reports.

Dental Evaluation of Kabuki Syndrome Patients

C. Kim, D. Bertola, L. Albano, 2009, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Natural history of 39 patients with Achondroplasia

C. Kim, G. Yamamoto, D. Bertola, 2018, Clinics.

Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features

M. Passos-Bueno, M. Zatz, C. Kim, 2015, American journal of medical genetics. Part A.

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

C. Kim, D. Bertola, R. Honjo, 2016, Revista da Associacao Medica Brasileira.

Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder.

H. Toriello, D. Bertola, M. Netzloff, 1997, American journal of medical genetics.

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

C. Kim, C. Lourenço, D. Bertola, 2014, American journal of medical genetics. Part A.

A subcranial Le Fort III advancement with distraction osteogenesis as a clinical strategy to approach pycnodysostosis with midface retrusion and exorbitism.

R. Denadai, D. Bertola, R. Jarrahy, 2013, The Journal of craniofacial surgery.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

Assessment of Intellectual and Visuo Spatial Abilities in Children and Adults with Williams Syndrome

C. Kim, D. Bertola, L. Albano, 2013 .

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

C. Kim, B. Mendonca, D. Bertola, 2016, Archives of endocrinology and metabolism.

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome

Brian J. Stevenson, A. Reymond, G. Superti-Furga, 2015, American journal of medical genetics. Part A.

Omodysplasia: the first reported Brazilian case.

C. Kim, D. Bertola, L. Albano, 2007, Clinics.

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

J. Mosser, J. Andrieux, C. Treguier, 2011, American journal of medical genetics. Part A.

A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder

Débora Romeo Bertola, Stephan J Sanders, Matthew W State, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport

M. Passos-Bueno, K. Griesi-Oliveira, D. Moreira, 2022, Frontiers in Cellular Neuroscience.

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

C. Kim, D. Bertola, L. Albano, 2009, European journal of medical genetics.

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

S. Robertson, M. Simpson, M. Irving, 2011, European Journal of Human Genetics.

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

S. Robertson, C. Kim, D. Bertola, 2007, Clinical dysmorphology.

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

C. Kim, C. Lourenço, V. D’Almeida, 2015, International journal of dermatology.

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder–Robinson X-linked recessive mental retardation syndrome

C. Schwartz, M. Passos-Bueno, A. Pegg, 2008, Journal of Medical Genetics.

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile

A. Jorge, D. Bertola, T. Homma, 2020, American journal of medical genetics. Part A.

Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder

N. Matsumoto, E. Imagawa, D. Bertola, 2023, Clinical genetics.

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.

K. Misawa, C. Kim, N. Matsumoto, 2022, Genomics.

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

A. Pagnamenta, P. Bauer, Jenny C. Taylor, 2020, American journal of human genetics.

AUTHOR QUERY SHEET

Mariana C. Moreira, Flavia Balbo Piazzon, F. Carvalho, 2012 .

Post-mortem cytogenomic investigations in patients with congenital malformations.

C. Kim, G. Yamamoto, D. Bertola, 2016, Experimental and molecular pathology.

Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication

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A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.

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A microduplication of 5 p 15 . 33 reveals CLPTM 1 L as a candidate gene for cleft lip and palate

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

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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

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Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

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

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Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome

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A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation

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Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome

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