Identification of a de novo PUF60 variant associated with craniofacial microsomia
Ogawa, Takuya, Xue, Jingyi, Guo, Long, Inoue‐Arai, Maristela Sayuri, Vendramini‐Pittoli, Siulan, Zechi‐Ceide, Roseli Maria, Candido‐Souza, Rosana Maria, Tonello, Cristiano, Brandão, Michele Madeira, Ozawa, Terumi Okada, Peixoto, Adriano Porto, Ruiz, Daniela Maria Cury Ferreira, Nakashima, Tomoki, Ikegawa, Shiro, Moriyama, Keiji, Kokitsu‐Nakata, Nancy Mizue
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
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Journal Article
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome
Gordon, Christopher T., Cunniff, Christopher M., Green, Glenn E., Zechi-Ceide, Roseli Maria, Johnson, Jason M., Henderson, Alex, Petit, Florence, Kokitsu-Nakata, Nancy Mizue, Guion-Almeida, Maria Leine, Munnich, Arnold, Cunningham, Michael L., Lyonnet, Stanislas, Amiel, Jeanne
Published in American journal of medical genetics. Part A (01.07.2014)
Published in American journal of medical genetics. Part A (01.07.2014)
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Journal Article
Auriculo-condylar syndrome. Confronting a diagnostic challenge
Kokitsu-Nakata, Nancy Mizue, Zechi-Ceide, Roseli Maria, Vendramini-Pittoli, Siulan, Romanelli Tavares, Vanessa Luiza, Passos-Bueno, Maria Rita, Guion-Almeida, Maria Leine
Published in American journal of medical genetics. Part A (01.01.2012)
Published in American journal of medical genetics. Part A (01.01.2012)
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Journal Article
Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome
Kokitsu-Nakata, Nancy Mizue, Segarra, Vinicius Contrucci Dantas, Tonello, Cristiano, Brandão, Michele Madeira, Alonso, Nivaldo, Zechi-Ceide, Roseli Maria
Published in American journal of medical genetics. Part A (29.05.2024)
Published in American journal of medical genetics. Part A (29.05.2024)
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Journal Article
Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly
Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
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?
Zechi‐Ceide, Roseli Maria, Guion‐Almeida, Maria Leine, Jehee, Fernanda Sarquis, Rocha, Katia, Passos‐Bueno, Maria Rita Santos
Published in American journal of medical genetics. Part A (01.07.2010)
Published in American journal of medical genetics. Part A (01.07.2010)
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Journal Article
Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears
Gordon, Christopher T., Petit, Florence, Kroisel, Peter M., Jakobsen, Linda, Zechi-Ceide, Roseli Maria, Oufadem, Myriam, Bole-Feysot, Christine, Pruvost, Solenn, Masson, Cécile, Tores, Frédéric, Hieu, Thierry, Nitschké, Patrick, Lindholm, Pernille, Pellerin, Philippe, Guion-Almeida, Maria Leine, Kokitsu-Nakata, Nancy Mizue, Vendramini-Pittoli, Siulan, Munnich, Arnold, Lyonnet, Stanislas, Holder-Espinasse, Muriel, Amiel, Jeanne
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Journal Article
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
Zechi-Ceide, Roseli Maria, Moura, Priscila Padilha, Raskin, Salmo, Richieri-Costa, Antonio, Guion-Almeida, Maria Leine
Published in American journal of medical genetics. Part A (01.08.2013)
Published in American journal of medical genetics. Part A (01.08.2013)
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Journal Article
Richieri-Costa-Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases
Favaro, Francine Pinheiro, Zechi-Ceide, Roseli Maria, Alvarez, Camila Wenceslau, Maximino, Luciana P., Antunes, Luis Fernando B. B., Richieri-Costa, Antonio, Guion-Almeida, Maria Leine
Published in American journal of medical genetics. Part A (01.02.2011)
Published in American journal of medical genetics. Part A (01.02.2011)
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Journal Article
Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7
Zechi‐Ceide, Roseli Maria, Rodrigues, Melina Guerreiro, Jehee, Fernanda Sarquis, Kokitsu‐Nakata, Nancy Mizue, Passos‐Bueno, Maria Rita, Guion‐Almeida, Maria Leine
Published in American journal of medical genetics. Part A (01.07.2012)
Published in American journal of medical genetics. Part A (01.07.2012)
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Journal Article
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
Guion‐Almeida, Maria Leine, Richieri‐Costa, Antonio, Jehee, Fernanda Sarquis, Passos‐Bueno, Maria Rita Santos, Zechi‐Ceide, Roseli Maria
Published in American journal of medical genetics. Part A (01.07.2012)
Published in American journal of medical genetics. Part A (01.07.2012)
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Journal Article
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?
Guion‐Almeida, Maria Leine, Vendramini‐Pittoli, Siulan, Passos‐Bueno, Maria Rita Santos, Zechi‐Ceide, Roseli Maria
Published in American journal of medical genetics. Part A (01.12.2009)
Published in American journal of medical genetics. Part A (01.12.2009)
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Journal Article
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes
Zechi‐Ceide, Roseli Maria, Ribeiro, Lucilene Arilho, Raskin, Salmo, Bertolacini, Claudia Danielli Pereira, Guion‐Almeida, Maria Leine, Richieri‐Costa, Antonio
Published in American journal of medical genetics. Part A (01.06.2009)
Published in American journal of medical genetics. Part A (01.06.2009)
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Journal Article
Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union
Zechi‐Ceide, Roseli Maria, Guion‐Almeida, Maria Leine, Zanchetta, Sthella, Richieri‐Costa, Antonio
Published in American journal of medical genetics. Part A (15.12.2007)
Published in American journal of medical genetics. Part A (15.12.2007)
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Journal Article
Cerebro-oculo-nasal syndrome: 13 new Brazilian cases
Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Richieri-Costa, Antonio
Published in American journal of medical genetics. Part A (15.12.2007)
Published in American journal of medical genetics. Part A (15.12.2007)
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Journal Article
Three-dimensional comparison of mandibular morphology in young people with Treacher Collins syndrome and Pierre Robin sequence
Kato, Renata Mayumi, Moura, Priscila Padilha, Zechi-Ceide, Roseli Maria, Tonello, Cristiano, Peixoto, Adriano Porto, Garib, Daniela
Published in American journal of orthodontics and dentofacial orthopedics (01.12.2021)
Published in American journal of orthodontics and dentofacial orthopedics (01.12.2021)
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Journal Article
Comparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study
Kato, Renata Mayumi, Moura, Priscila Padilha, Zechi-Ceide, Roseli Maria, Tonello, Cristiano, Peixoto, Adriano Porto, Garib, Daniela
Published in The Cleft palate-craniofacial journal (01.01.2021)
Published in The Cleft palate-craniofacial journal (01.01.2021)
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Journal Article
Auriculo-condylar syndrome: additional patients
Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Vendramini, Siulan, Kokitsu-Nakata, Nancy Mizue
Published in American journal of medical genetics (01.10.2002)
Published in American journal of medical genetics (01.10.2002)
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Journal Article