R. Zechi-Ceide

发表

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Siulan Vendramini-Pittoli, R. M. Candido-Souza, R. Quiezi, 2020, Journal of Pediatric Genetics.

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done?

D. Bueno, M. Passos-Bueno, R. Zechi-Ceide, 2009, American journal of medical genetics. Part A.

Three-dimensional comparison of mandibular morphology in young people with Treacher Collins syndrome and Pierre Robin sequence.

R. Zechi-Ceide, D. Garib, R. Kato, 2021, American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics.

Comparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study

R. Zechi-Ceide, D. Garib, R. Kato, 2020, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome

L. Hoefsloot, Siulan Vendramini-Pittoli, R. M. Candido-Souza, 2019, American journal of medical genetics. Part A.

A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia

R. Zechi-Ceide, M. Guion-Almeida, A. Richieri‐Costa, 2013, American journal of medical genetics. Part A.

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

B. Papsin, R. Zechi-Ceide, N. M. Kokitsu-Nakata, 2022, Human mutation.

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

B. Papsin, J. T. Dunnen, H. Buermans, 2015, European Journal of Human Genetics.

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

Jason M. Johnson, A. Munnich, M. Cunningham, 2014, American journal of medical genetics. Part A.

Auriculo‐condylar syndrome. Confronting a diagnostic challenge

M. Passos-Bueno, Siulan Vendramini-Pittoli, R. Zechi-Ceide, 2012, American journal of medical genetics. Part A.

Auriculo-condylar syndrome: additional patients.

R. Zechi-Ceide, N. M. Kokitsu-Nakata, M. Guion-Almeida, 2002, American journal of medical genetics.

Auriculo-condylar syndrome: further evidence for a new disorder.

R. Zechi-Ceide, N. M. Kokitsu-Nakata, M. Guion-Almeida, 1999, American journal of medical genetics.

Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

M. Passos-Bueno, R. Zechi-Ceide, N. M. Kokitsu-Nakata, 2012, American journal of medical genetics. Part A.

Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome

R. Zechi-Ceide, A. Richieri‐Costa, G. Dalben, 2018, The Journal of craniofacial surgery.

Insight into the Ontogeny of GnRH Neurons from Patients Born Without a Nose.

Janice S. Lee, J. Graham, W. Crowley, 2020, The Journal of clinical endocrinology and metabolism.

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

A. Munnich, C. Bole-Feysot, P. Nitschké, 2013, American journal of human genetics.

Laryngeal malformation in Richieri‐Costa Pereira syndrome: New findings

R. Zechi-Ceide, C. Carneiro, K. F. Genaro, 2012, American journal of medical genetics. Part A.

Oral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity?

R. Zechi-Ceide, M. Guion-Almeida, A. Richieri‐Costa, 2008, Clinical dysmorphology.

A review of craniofacial disorders caused by spliceosomal defects

D. Wieczorek, M. Passos-Bueno, R. Zechi-Ceide, 2015, Clinical genetics.

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.

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

Siulan Vendramini-Pittoli, R. Zechi-Ceide, N. M. Kokitsu-Nakata, 2016, Journal of Pediatric Genetics.

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.

M. Passos-Bueno, R. Zechi-Ceide, M. Guion-Almeida, 2008, European journal of medical genetics.

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

R. Zechi-Ceide, M. Guion-Almeida, S. Vendramini, 2006, Clinical dysmorphology.

Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union

R. Zechi-Ceide, M. Guion-Almeida, A. Richieri‐Costa, 2007, American journal of medical genetics. Part A.

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion

M. Passos-Bueno, R. Zechi-Ceide, F. Jehee, 2012, American journal of medical genetics. Part A.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

J. Ragoussis, S. Knight, H. Brunner, 2013, Human molecular genetics.

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.

Cerebro‐oculo‐nasal syndrome: 13 new Brazilian cases

R. Zechi-Ceide, M. Guion-Almeida, A. Richieri‐Costa, 2007, American journal of medical genetics. Part A.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

D. Horn, B. Gener, D. Lev, 2012, American journal of human genetics.

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X‐linked syndrome?

M. Passos-Bueno, Siulan Vendramini-Pittoli, R. Zechi-Ceide, 2009, American journal of medical genetics. Part A.

Richieri‐Costa–Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases

R. Zechi-Ceide, M. Guion-Almeida, A. Richieri‐Costa, 2011, American journal of medical genetics. Part A.

Mandibulofacial dysostosis Bauru type: Refining the phenotype

Siulan Vendramini-Pittoli, R. Zechi-Ceide, N. M. Kokitsu-Nakata, 2017, American journal of medical genetics. Part A.

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.

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation

M. Passos-Bueno, R. Zechi-Ceide, M. Guion-Almeida, 2007, Clinical dysmorphology.

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

M. Passos-Bueno, R. Zechi-Ceide, M. Guion-Almeida, 2008, European Journal of Human Genetics.

Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome.

M. Passos-Bueno, Siulan Vendramini-Pittoli, R. Zechi-Ceide, 2022, Clinical dysmorphology.

Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome.

R. Zechi-Ceide, M. Guion-Almeida, A. Richieri‐Costa, 2000, Clinical dysmorphology.

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

Siulan Vendramini-Pittoli, R. Zechi-Ceide, L. Ribeiro-Bicudo, 2016, Molecular Syndromology.

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

A. Munnich, N. Katsanis, P. Ernfors, 2015, American journal of human genetics.

Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes

R. Zechi-Ceide, M. Guion-Almeida, A. Richieri‐Costa, 2009, American journal of medical genetics. Part A.

Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder

R. Zechi-Ceide, M. Guion-Almeida, A. Richieri‐Costa, 2008, Clinical dysmorphology.

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson–McMillin syndrome?

M. Passos-Bueno, R. Zechi-Ceide, K. Rocha, 2010, American journal of medical genetics. Part A.

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.

Siulan Vendramini-Pittoli, R. Zechi-Ceide, P. P. Moura, 2023, American journal of medical genetics. Part A.

Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development

M. Passos-Bueno, M. Zatz, R. Zechi-Ceide, 2018, Front. Genet..

Contents Vol. 7, 2016

M. Mussini, M. Poot, Siulan Vendramini-Pittoli, 2016, Molecular Syndromology.

Monodactyly in a patient with CHARGE syndrome: An additional case report

R. Zechi-Ceide, N. Kokitsu-Nakata, H. R. Serigatto, 2024, American journal of medical genetics. Part A.