Search Results - "Vendramini‐Pittoli, Siulan"

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review by Serigatto, Henrique Regonaschi, Kokitsu-Nakata, Nancy Mizue, Vendramini-Pittoli, Siulan, Tonello, Cristiano, Moura, Priscila Padilha, Peixoto, Adriano Porto, Gomes, Luiz Paulo, Zechi-Ceide, Roseli Maria

“…The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with unknown etiology, characterized by the association of frontonasal dysplasia (FND) and…”
Get full text

Identification of a de novo PUF60 variant associated with craniofacial microsomia by 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

“…Craniofacial microsomia (CFM), also known as the oculo‐auriculo‐vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and…”
Get full text

Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum by Parizotto, Julianna de Oliveira Lima, Peixoto, Adriano Porto, Borsato, Karina Tostes, Bianchi, Jonas, Vendramini Pittoli, Siulan, Tonello, Cristiano, Gonçalves, João Roberto

“…Objectives The objectives of this study were to characterize the craniofacial and airway morphology of oculo‐auriculo‐vertebral spectrum (OAVS) individuals…”
Get full text

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome by Richieri‐Costa, Antonio, Zechi‐Ceide, Roseli M., Candido‐Souza, Rosana M., Monteiro, Rejane A. C., Tonello, Cristiano, Freitas, Mariana L., Kokitsu‐Nakata, Nancy M., Vendramini‐Pittoli, Siulan, Mazzeu, Juliana F., Overes, Madelief, Ali‐Amin, Roza, Slegtenhorst, Marjon, Hoefsloot, Lies H., Jehee, Fernanda S.

“…Here we report on a Brazilian child who presented semilobar holoprosencephaly, frontonasal encephaloceles and bilateral cleft lip and palate. Malformations…”
Get full text

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…”
Get full text

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome by Romanelli Tavares, Vanessa L., Zechi‐Ceide, Roseli M., Bertola, Debora R., Gordon, Christopher T., Ferreira, Simone G., Hsia, Gabriella S. P., Yamamoto, Guilherme L., Ezquina, Suzana A. M., Kokitsu‐Nakata, Nancy M., Vendramini‐Pittoli, Siulan, Freitas, Renato S., Souza, Josiane, Raposo‐Amaral, Cesar A., Zatz, Mayana, Amiel, Jeanne, Guion‐Almeida, Maria L., Passos‐Bueno, Maria Rita

“…Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an…”
Get full text

Mandibulofacial dysostosis Bauru type: Refining the phenotype by Moura, Priscila P., Kokitsu‐Nakata, Nancy M., Yatabe, Marília S., Vendramini‐Pittoli, Siulan, Hori, Pedro H., Guion‐Almeida, Maria L., Garib, Daniela G., Richieri‐Costa, Antonio, Zechi‐Ceide, Roseli M.

“…Mandibulofacial dysostosis (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by malar hypoplasia, orofacial cleft, and…”
Get full text

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome by Kokitsu‐Nakata, Nancy Mizue, Petrin, Aline Lourenço, Heard, Jason Paul, Vendramini‐Pittoli, Siulan, Henkle, Laura E, dos Santos, Daniela Vera Cruz, Murray, Jeffrey Clark, Richieri‐Costa, Antonio

“…Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing…”
Get full text

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…”
Get full text

Cerebro-oculo-nasal syndrome: Report of a case with a severe phenotype by Kokitsu-Nakata, Nancy Mizue, Pittoli, Siulan Vendramini Paulovich, Richieri da Costa, Antonio

Get full text

Craniofacial Microsomia: New Updates in Spinal Anomalies by Gonçalves Ferraz, Beatriz, Vendramini-Pittoli, Siulan, Gomes, Luiz Paulo, Madeira Brandão, Michele, Alonso, Nivaldo, Tonello, Cristiano

Get full text

Craniocervical Instability in Oculoauriculovertebral Spectrum by Gomes, Luiz Paulo, Ferraz, Beatriz Gonçalves, Brandão, Michele Madeira, Alonso, Nivaldo, Pittoli, Siulan Vendramini, Tonello, Cristiano

Get full text

Craniocervical Instability in Oculoauriculovertebral Spectrum by Gomes, Luiz Paulo, Ferraz, Beatriz Gonçalves, Brandão, Michele Madeira, Alonso, Nivaldo, Pittoli, Siulan Vendramini, Tonello, Cristiano

“…The oculoauriculovertebral spectrum (OAVS) are anomalies of the first and second pharyngeal arches, causing craniofacial changes, principally facial asymmetry,…”
Get full text

Craniofacial Microsomia: New Updates in Spinal Anomalies by Gonçalves Ferraz, Beatriz, Vendramini-Pittoli, Siulan, Gomes, Luiz Paulo, Madeira Brandão, Michele, Alonso, Nivaldo, Tonello, Cristiano

“…Craniofacial microsomia (CFM) involves anomalies of the first and second pharyngeal arches, mainly of the mandible, maxilla, ears, and vertebral spine. This…”
Get full text

A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects by Palagano, Eleonora, Gordon, Christopher T., Uva, Paolo, Strina, Dario, Dimartino, Clémantine, Villa, Anna, Amiel, Jeanne, Guion-Almeida, Maria L., Vendramini-Pittoli, Siulan, Kokitsu-Nakata, Nancy M., Zechi-Ceide, Roseli M., Sobacchi, Cristina

“…Acrofrontofacionasal dysostosis type 1 (AFFND1) is an extremely rare disorder characterized by several dysmorphic features, skeletal abnormalities and…”
Get full text

Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature by Vendramini-Pittoli, Siulan, Kokitsu-Nakata, Nancy Mizue

“…Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The…”
Get full text

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome by Kievit, Anneke, Tessadori, Federico, Douben, Hannie, Jordens, Ingrid, Maurice, Madelon, Hoogeboom, Jeannette, Hennekam, Raoul, Nampoothiri, Sheela, Kayserili, Hülya, Castori, Marco, Whiteford, Margo, Motter, Connie, Melver, Catherine, Cunningham, Michael, Hing, Anne, Kokitsu-Nakata, Nancy M, Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio, Baas, Annette F, Breugem, Corstiaan C, Duran, Karen, Massink, Maarten, Derksen, Patrick W B, van IJcken, Wilfred F J, van Unen, Leontine, Santos-Simarro, Fernando, Lapunzina, Pablo, Gil-da Silva Lopes, Vera L, Lustosa-Mendes, Elaine, Krall, Max, Slavotinek, Anne, Martinez-Glez, Victor, Bakkers, Jeroen, van Gassen, Koen L I, de Klein, Annelies, van den Boogaard, Marie-José H, van Haaften, Gijs

“…Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental…”
Get full text

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…”
Get full text

Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome by Serigatto, Henrique R., Kokitsu-Nakata, Nancy M., Moura, Priscila P., Vendramini-Pittoli, Siulan, Virmond, Luiza A., Peixoto, Adriano P., Tonello, Cristiano, Brito, Luciano A., Passos-Bueno, Maria R., Zechi-Ceide, Roseli M.

Get full text

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect by Romanelli Tavares, Vanessa L, Gordon, Christopher T, Zechi-Ceide, Roseli M, Kokitsu-Nakata, Nancy Mizue, Voisin, Norine, Tan, Tiong Y, Heggie, Andrew A, Vendramini-Pittoli, Siulan, Propst, Evan J, Papsin, Blake C, Torres, Tatiana T, Buermans, Henk, Capelo, Luciane Portas, den Dunnen, Johan T, Guion-Almeida, Maria L, Lyonnet, Stanislas, Amiel, Jeanne, Passos-Bueno, Maria Rita

“…Auriculocondylar syndrome is a rare craniofacial disorder comprising core features of micrognathia, condyle dysplasia and question mark ear. Causative variants…”
Get full text