Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
Nakajima, Masahiro, Mizumoto, Shuji, Miyake, Noriko, Kogawa, Ryo, Iida, Aritoshi, Ito, Hironori, Kitoh, Hiroshi, Hirayama, Aya, Mitsubuchi, Hiroshi, Miyazaki, Osamu, Kosaki, Rika, Horikawa, Reiko, Lai, Angeline, Mendoza-Londono, Roberto, Dupuis, Lucie, Chitayat, David, Howard, Andrew, Leal, Gabriela F., Cavalcanti, Denise, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Watanabe, Shigehiko, Lausch, Ekkehart, Unger, Sheila, Bonafé, Luisa, Ohashi, Hirofumi, Superti-Furga, Andrea, Matsumoto, Naomichi, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Beales, Philip L, Rooryck, Caroline, Diaz-Font, Anna, Osborn, Daniel P S, Chabchoub, Elyes, Hernandez-Hernandez, Victor, Shamseldin, Hanan, Kenny, Joanna, Waters, Aoife, Jenkins, Dagan, Kaissi, Ali Al, Leal, Gabriela F, Dallapiccola, Bruno, Carnevale, Franco, Bitner-Glindzicz, Maria, Lees, Melissa, Hennekam, Raoul, Stanier, Philip, Burns, Alan J, Peeters, Hilde, Alkuraya, Fowzan S
Published in Nature genetics (01.03.2011)
Published in Nature genetics (01.03.2011)
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Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features
Ferreira, Laura D., Leal, Gabriela F., de Oliveira, João Ricardo Mendes
Published in Journal of molecular neuroscience (01.12.2021)
Published in Journal of molecular neuroscience (01.12.2021)
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DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation
Guerra, João V.S., Oliveira-Santos, José, Oliveira, Danyllo F., Leal, Gabriela F., Oliveira, João Ricardo M., Costa, Silvia S., Krepischi, Ana C.V., Vianna-Morgante, Angela M., Maschietto, Mariana
Published in European journal of medical genetics (01.03.2020)
Published in European journal of medical genetics (01.03.2020)
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Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature
Monteiro, Fabíola P., Vieira, Társis P., Sgardioli, Ilária C., Molck, Miriam C., Damiano, Ana Paula, Souza, Josiane, Monlleó, Isabella L., Fontes, Marshall I. B., Fett-Conte, Agnes C., Félix, Têmis M., Leal, Gabriela F., M.Ribeiro, Erlane, Banzato, Claudio E. M., Dantas, Clarissa de R., Lopes-Cendes, Iscia, Gil-da-Silva-Lopes, Vera Lúcia
Published in European journal of pediatrics (01.07.2013)
Published in European journal of pediatrics (01.07.2013)
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Clinical Features in Patients with 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities
Vieira, Társis P., Monteiro, Fabíola P., Sgardioli, Ilária C., Souza, Josiane, Fett-Conte, Agnes C., Monlleó, Isabella L., Fontes, Marshall B., Félix, Têmis, Leal, Gabriela F., Ribeiro, Erlane Marques, Gil-Da-Silva-Lopes, Vera L.
Published in The Cleft palate-craniofacial journal (01.07.2015)
Published in The Cleft palate-craniofacial journal (01.07.2015)
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van den Ende–Gupta syndrome: Evidence for genetic heterogeneity
Leal, Gabriela F., Silva, Elias O.
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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Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?
Leal, Gabriela F., Silva, Elias O., Duarte, Andréa R., Campos, João F.
Published in American journal of medical genetics. Part A (15.04.2008)
Published in American journal of medical genetics. Part A (15.04.2008)
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Three additional cases of the Michels syndrome
Leal, Gabriela F., Baptista, Eduardo V.P.
Published in American journal of medical genetics. Part A (15.11.2007)
Published in American journal of medical genetics. Part A (15.11.2007)
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Microcefalia primária autossômica recessiva em três famílias pernambucanas: aspectos clínicos e moleculares Autosomal recessive primary microcephaly in three families from Pernambuco: clinical and molecular aspects
Gabriela F. Leal
Published in Revista brasileira de saúde materno infantil = Brazilian journal of mother and child health (01.06.2005)
Published in Revista brasileira de saúde materno infantil = Brazilian journal of mother and child health (01.06.2005)
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Poland anomaly with foot symbrachydactyly
Silva, Elias O, Leal, Gabriela F, Carvalho, Valentina N
Published in American journal of medical genetics (15.05.2002)
Published in American journal of medical genetics (15.05.2002)
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