D. Brunoni

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Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a SCARF2 microdeletion

D. Valle, T. de Ravel, I. Casteels, 2014, American journal of medical genetics. Part A.

Ocular and clinical manifestations of Möbius' syndrome.

D. Brunoni, M. Cronemberger, J. B. de Castro Moreira, 2001, Journal of pediatric ophthalmology and strabismus.

Identifying Autism with a Brief and Low-Cost Screening Instrument—OERA: Construct Validity, Invariance Testing, and Agreement Between Judges

D. Brunoni, C. S. Paula, D. Bordini, 2017, Journal of Autism and Developmental Disorders.

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

A. Richieri‐Costa, J. Mazzeu, A. Vianna-Morgante, 2007, American journal of medical genetics. Part A.

Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence.

M. I. Melaragno, D. Brunoni, M. Briones, 2006, Pediatric neurology.

Procedures and compliance of a video modeling applied behavior analysis intervention for Brazilian parents of children with autism spectrum disorders

Helena Brentani, D. Brunoni, H. Brentani, 2017, Autism : the international journal of research and practice.

Use of misoprostol during pregnancy and Möbius' syndrome in infants.

G. Koren, C. Speck-Martins, D. Brunoni, 1998, The New England journal of medicine.

Prenatal exposure to misoprostol and vascular disruption defects: a case-control study.

G. Koren, C. Kim, D. Brunoni, 2000, American journal of medical genetics.

Identification of 8 new mutations in Brazilian families with Marfan syndrome

M. Passos-Bueno, M. Zatz, D. Brunoni, 1999, Human mutation.

Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: Importance of the relative proportion of the 45,X line in gonadal tissue

D. Brunoni, B. Bianco, M. Lipay, 2006, American journal of medical genetics. Part A.

Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1→qter duplication

X. Estivill, M. I. Melaragno, D. Brunoni, 2001, Journal of medical genetics.

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

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

Syndrome identification case report 92: Hirschsprung megacolon, cleft lip and palate, mental retardation, and minor congenital malformations.

D. Brunoni, L. Farah, R. Joffe, 1983, The Journal of clinical dysmorphology.

Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefèvre syndrome.

D. Brunoni, T. Hart, J. Sanchez, 2002, Molecular genetics and metabolism.

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

K. Doheny, K. Hetrick, N. Sobreira, 2014, Molecular Syndromology.

Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report

M. I. Melaragno, D. Brunoni, R. Pellegrino, 2012, Journal of Medical Case Reports.

CFC index for the diagnosis of cardiofaciocutaneous syndrome.

D. Brunoni, M. I. Kavamura, M. Alchorne, 2002, American journal of medical genetics.

Multiple rhabdomyomas in monozygotic twins

D. Brunoni, M. Ebaid, M. Zamith, 1999, Cardiology in the Young.

A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease.

M. I. Melaragno, D. Brunoni, H. Lederman, 1992, Annales de genetique.

Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndrome

M. I. Melaragno, D. Brunoni, D. Christofolini, 2007 .

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

M. Passos-Bueno, M. Zatz, A. Richieri‐Costa, 1998, American journal of medical genetics.

Array CGH detection of a cryptic deletion in a complex chromosome rearrangement

H. Tanke, W. Sloos, D. Brunoni, 2005, Human Genetics.

Prevalence of Pervasive Developmental Disorder in Down’s Syndrome

D. Brunoni, M. Mercadante, C. S. Paula, 2007, Journal of autism and developmental disorders.

Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy.

C. Kim, D. Brunoni, M. J. Marques-Dias, 1993, American journal of medical genetics.

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.

M. I. Melaragno, D. Brunoni, D. Christofolini, 2012, Gene.

SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey

D. Brunoni, I. Schwartz, D. Horovitz, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Identifying Autism with a Brief and Low-Cost Screening Instrument—OERA: Construct Validity, Invariance Testing, and Agreement Between Judges

D. Brunoni, D. Bordini, J. Mari, 2017, Journal of Autism and Developmental Disorders.

CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome

S. Schwartz, J. Carpten, J. Trent, 1999, Nature Genetics.

Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias

D. Brunoni, M. Cernach, H. Lederman, 1998 .

DIagnosys: An Analytical Framework for the Identification of Elementary School Students with Intellectual Disability

Leandro Augusto da Silva, D. Brunoni, A. Seabra, 2021, Frontiers in Education.

Duplication 4p and deletion 4p (Wolf–Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation

D. Brunoni, S. Takeno, M. Smith, 2004, American journal of medical genetics. Part A.

Thalidomide, a current teratogen in South America

D. Brunoni, T. Félix, P. Ashton-Prolla, 1996 .

Evaluation of a Protocol for Postmortem Examination of Stillbirths and Neonatal Deaths with Congenital Anomalies

D. Brunoni, M. Cernach, A. Moron, 2004, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Environmental Influences Measured by Epigenetic Clock and Vulnerability Components at Birth Impact Clinical ASD Heterogeneity

John Quackenbush, R. Z. Vêncio, D. Brunoni, 2021, Genes.

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 → pter and partial trisomy 1q41 → qter suggests neo‐telomere formation in stabilizing the deleted chromosome

S. Schwartz, D. Brunoni, L. Kulikowski, 2006, American journal of medical genetics. Part A.

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

J. Opitz, D. Brunoni, M. Zollino, 2003, European Journal of Human Genetics.

Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis

J. Squire, M. I. Melaragno, D. Brunoni, 2006, American journal of medical genetics. Part A.

Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil

D. Brunoni, V. D’Almeida, A. B. Alvarez Perez, 2005, American journal of medical genetics. Part A.

Tetraploid/diploid mosaicism: case report and review of the literature.

D. Brunoni, A. Bortolai, L. Alonso, 2002, Annales de genetique.

Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study.

G. Koren, D. Brunoni, A. Pastuszak, 1999, Reproductive toxicology.

Pure duplication 1q41‐qter: Further delineation of trisomy 1q syndromes

M. I. Melaragno, D. Brunoni, D. Christofolini, 2008, American journal of medical genetics. Part A.

Bilateral retinoblastoma associated with 13q-mosaicism. Possible manifestation of a germinal mutation.

D. Brunoni, C. Erwenne, J. Andrade, 1988, Cancer genetics and cytogenetics.

Clinical Genetics in Developing Countries: The Case of Brazil

D. Brunoni, V. E. F. Ferraz, A. Acosta, 2004, Public Health Genomics.

Divorce in families of children with Down Syndrome or Rett Syndrome.

D. Brunoni, J. S. Schwartzman, M. E. D'Antino, 2015, Ciencia & saude coletiva.

Genotype-phenotype correlation in Brazillian Rett syndrome patients.

Y. Juliano, D. Brunoni, J. S. Schwartzman, 2009, Arquivos de neuro-psiquiatria.

Medical Genetics Services in the City of São Paulo, Brazil

D. Brunoni, 2004, Public Health Genomics.

Chromosome abnormalities in selected newborn infants with malformations in Brazil.

D. Brunoni, L. A. Carvalho, H. Hironaka, 1989, American journal of medical genetics.

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

M. Passos-Bueno, A. Richieri‐Costa, D. Brunoni, 2000, Human mutation.

Thalidomide, a current teratogen in South America.

D. Brunoni, T. Félix, P. Ashton-Prolla, 1996, Teratology.

Terminal deletion of chromosome 10q26 due to a paternal translocation [(7;10)(q36;q26)].

D. Brunoni, C. Borovik, 1991, American journal of medical genetics.

Determining the frequency of morphological characteristics in a sample of Brazilian children.

D. Brunoni, Eduardo Perrone, R. Fock, 2017, Jornal de pediatria.

Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family.

A. Richieri‐Costa, D. Brunoni, J. Laredo Filho, 1987, American journal of medical genetics.

Genetic hearing loss: a study of 228 Brazilian patients

D. Brunoni, Silvia Bragagnolo Longhitano, 2000 .

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

N. Spinner, C. Kim, L. Conlin, 2014, American journal of medical genetics. Part A.

Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA.

D. Brunoni, D. Christofolini, M. Lipay, 2006, Genetics and molecular research : GMR.

Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfecta and dentinogenesis imperfecta

D. Brunoni, T. Hart, J. Cortelli, 2001 .

Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males

Y. Juliano, A. Vianna-Morgante, D. Brunoni, 2009, Journal of intellectual disabilities : JOID.

Ring chromosome instability evaluation in six patients with autosomal rings.

Y. Juliano, M. I. Melaragno, D. Brunoni, 2010, Genetics and molecular research : GMR.

A randomised clinical pilot trial to test the effectiveness of parent training with video modelling to improve functioning and symptoms in children with autism spectrum disorders and intellectual disability.

J. de Jesus Mari, D. Brunoni, H. Brentani, 2020, Journal of intellectual disability research : JIDR.

[Genetics of autism].

D. Brunoni, N. Vergani, G. Carvalheira, 2004, Revista brasileira de psiquiatria.

Genetics of autism Genética do autismo

D. Brunoni, N. Vergani, G. Carvalheira, 2004 .

Cytogenetic and molecular evaluation and 20‐year follow‐up of a patient with ring chromosome 14

N. Spinner, L. Conlin, D. Brunoni, 2010, American journal of medical genetics. Part A.

Mismatch between diagnostic reports and special educational needs classification in a public educational system

D. Brunoni, C. S. Paula, L. R. Carreiro, 2016, Arquivos de Neuro-Psiquiatria.

Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida

D. Brunoni, V. D’Almeida, N. Vergani, 2003, American journal of medical genetics. Part A.

Finlay–Marks (SEN) syndrome: A sporadic case and the delineation of the syndrome

N. Sobreira, D. Brunoni, A. Perez, 2006, American journal of medical genetics. Part A.

Instrument to screen cases of pervasive developmental disorder: a preliminary indication of validity.

D. Brunoni, M. Mercadante, E. Nakano, 2009, Revista brasileira de psiquiatria.

[Use of the Internet to report congenital malformations on birth certificates at four public maternity hospitals in the city of São Paulo, Brazil].

D. Brunoni, M. Cernach, A. Perez, 2010, Cadernos de saude publica.

Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome

D. Brunoni, M. Cernach, A. Carvalho, 2010, Genetics and molecular biology.

Microcephaly and other Zika virus related events: the impact on children, families and health teams.

D. Brunoni, A. Seabra, S. M. Blascovi-Assis, 2016, Ciencia & saude coletiva.

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

S. Mundlos, C. Ott, E. Klopocki, 2009, American journal of human genetics.

Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis.

D. Brunoni, M. Cernach, N. L. de Macena Sobreira, 2008, Clinical dysmorphology.

1H NMR Metabolomics and Lipidomics To Monitor Positive Responses in Children with Autism Spectrum Disorder Following a Guided Parental Intervention: A Pilot Study.

D. Brunoni, M. Hayashi, H. Brentani, 2023, ACS chemical neuroscience.

Impact of 5-HTTLPR and BDNF polymorphisms on response to sertraline versus transcranial direct current stimulation: Implications for the serotonergic system

F. Fregni, I. Benseñor, A. Goulart, 2013, European Neuropsychopharmacology.

Screening for signs and symptoms of autism spectrum disorders in siblings

T. Mecca, D. Brunoni, J. S. Schwartzman, 2011 .

Birth defects and environmental pollution: the Cubatão example.

D. Brunoni, M. L. Lebrão, R. Laurenti, 1985, Progress in clinical and biological research.

A normative model representing autistic individuals amidst Autism Spectrum Disorders phenotypic heterogeneity

J. de Jesus Mari, R. Z. Vêncio, D. Brunoni, 2021, medRxiv.

Pseudoaminopterin syndrome: Clinical report with new characteristics

N. Sobreira, D. Brunoni, M. Cernach, 2009, American journal of medical genetics. Part A.

Word loss trajectory in autism spectrum disorder: Analysis of home videos

T. Mecca, D. Brunoni, C. Bosa, 2019, Psicologia - Teoria e Prática.

Duchenne muscular dystrophy in a girl with an (X;15) translocation.

M. I. Melaragno, D. Brunoni, C. Hackel, 1986, American journal of medical genetics.

Transcranial Direct Current Stimulation: A Novel Approach to Control Hyperphagia in Prader-Willi Syndrome

F. Fregni, P. Boggio, D. Brunoni, 2009, Journal of child neurology.

Subtelomeric rearrangements and copy number variations in people with intellectual disabilities.

M. I. Melaragno, D. Brunoni, S. Belangero, 2010, Journal of intellectual disability research : JIDR.

Motor performance, reading, writing and arithmetic competence in Elementary School I

Ana Rita Amorim, D. Brunoni, A. Seabra, 2022 .

Complex toe syndactyly with characteristic facial phenotype: A new syndrome?

N. Sobreira, D. Brunoni, A. Perez, 2008, American journal of medical genetics. Part A.

TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER

D. Brunoni, H. Brentani, Eduardo Perrone, 2020, Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo.

D. Brunoni, D. Christofolini, F. Piazzon, 2012, Gene.