Search Results - "Guion‐Almeida, Maria Leine"

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly by 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.

“…Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a…”
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Auriculo-condylar syndrome. Confronting a diagnostic challenge by Kokitsu-Nakata, Nancy Mizue, Zechi-Ceide, Roseli Maria, Vendramini-Pittoli, Siulan, Romanelli Tavares, Vanessa Luiza, Passos-Bueno, Maria Rita, Guion-Almeida, Maria Leine

“…Auriculo‐condylar syndrome (ACS) is characterized by typical ears malformation (so‐called “question mark” ears), prominent cheeks, microstomia, and abnormality…”
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Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears by 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

“…Auriculocondylar syndrome (ACS) is a rare craniofacial disorder with mandibular hypoplasia and question-mark ears (QMEs) as major features. QMEs, consisting of…”
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Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: Report of 10 Brazilian male patients by Guion‐Almeida, Maria Leine, Richieri‐Costa, Antonio

“…Here we report on 10 male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and severe central nervous…”
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Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome by 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

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Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity by MASOTTI, Cibele, OLIVEIRA, Karina G, POERNER, Fabiana, SPLENDORE, Alessandra, SOUZA, Josiane, DA SILVA FREITAS, Renato, ZECHI-CEIDE, Roseli, GUION-ALMEIDA, Maria Leine, PASSOS-BUENO, Maria Rita

“…Auriculo-condylar syndrome (ACS), an autosomal dominant disorder of first and second pharyngeal arches, is characterized by malformed ears ('question mark…”
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Nonsyndromic alar clefts: Report of five Brazilian patients by Richieri‐Costa, Antonio, Guion‐Almeida, Maria Leine

“…Nonsyndromic alar clefts are rare and they range from a small notch to variable size of clefts of the nasal ala. Usually they are restricted to the alar…”
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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? by Guion‐Almeida, Maria Leine, Vendramini‐Pittoli, Siulan, Passos‐Bueno, Maria Rita Santos, Zechi‐Ceide, Roseli Maria

“…We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch…”
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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? by Zechi‐Ceide, Roseli Maria, Guion‐Almeida, Maria Leine, Jehee, Fernanda Sarquis, Rocha, Katia, Passos‐Bueno, Maria Rita Santos

“…We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia,…”
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Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union by Zechi‐Ceide, Roseli Maria, Guion‐Almeida, Maria Leine, Zanchetta, Sthella, Richieri‐Costa, Antonio

“…Here, we report a newly recognized syndrome in three siblings with occipital atretic cephalocele, striking facial anomalies, and large feet. Specific findings…”
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Cerebro-oculo-nasal syndrome: 13 new Brazilian cases by Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Richieri-Costa, Antonio

“…Cerebro‐oculo‐nasal syndrome (CONS) is characterized by structural anomalies of the central nervous system (encephalocele, ventricular dilatation, defects of…”
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update by Huang, Lijia, Vanstone, Megan R., Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hunter, Alasdair G.W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antonie D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E.V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Consortium, Care4Rare Canada, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A.

“…ABSTRACT Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss,…”
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Terminal osseous dysplasia and pigmentary defects in a Brazilian girl by Kokitsu-Nakata, Nancy Mizue, Antunes, Luís Fernando Benedito Bérgamo, Guion-Almeida, Maria Leine

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Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia by Gordon, Christopher T., Weaver, K. Nicole, Zechi-Ceide, Roseli Maria, Madsen, Erik C., Tavares, Andre L.P., Oufadem, Myriam, Kurihara, Yukiko, Adameyko, Igor, Picard, Arnaud, Breton, Sylvain, Pierrot, Sébastien, Biosse-Duplan, Martin, Voisin, Norine, Masson, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Delrue, Marie-Ange, Lacombe, Didier, Guion-Almeida, Maria Leine, Moura, Priscila Padilha, Garib, Daniela Gamba, Munnich, Arnold, Ernfors, Patrik, Hufnagel, Robert B., Hopkin, Robert J., Kurihara, Hiroki, Saal, Howard M., Weaver, David D., Katsanis, Nicholas, Lyonnet, Stanislas, Golzio, Christelle, Clouthier, David E., Amiel, Jeanne

“…The endothelin receptor type A (EDNRA) signaling pathway is essential for the establishment of mandibular identity during development of the first pharyngeal…”
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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 by Zechi-Ceide, Roseli Maria, Moura, Priscila Padilha, Raskin, Salmo, Richieri-Costa, Antonio, Guion-Almeida, Maria Leine

“…Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range…”
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Acrofrontofacionasal dysostosis: Report of the third Brazilian family by Guion-Almeida, Maria Leine, Richieri-Costa, A.

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Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature by VENDRARMINI, Siulan, RICHIERI-COSTA, Antonio, GUION-ALMEIDA, Maria Leine

“…The first and second branchial arches are embryonic primordium that contributes to craniofacial development. Interferences in normal development of these…”
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Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis by Guion‐Almeida, Maria Leine, Richieri‐Costa, Antonio

“…We report on two unrelated Brazilian boys with craniofacial anomalies that involve the frontonasal process and the first branchial arch associated with…”
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Richieri-Costa-Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases by 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

“…We reported on 16 new Brazilian patients and review findings in 12 previously reported cases (25 apparently unrelated Brazilian families) from Hospital of…”
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Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 by Zechi‐Ceide, Roseli Maria, Rodrigues, Melina Guerreiro, Jehee, Fernanda Sarquis, Kokitsu‐Nakata, Nancy Mizue, Passos‐Bueno, Maria Rita, Guion‐Almeida, Maria Leine

“…The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp…”
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