Search Results - "Leal, Gabriela F"

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders by 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

“…Proteoglycans (PGs) are a major component of the extracellular matrix in many tissues and function as structural and regulatory molecules. PGs are composed of…”
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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome by 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

“…Phil Beales and colleagues show that mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome, a disorder that includes…”
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Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features by Ferreira, Laura D., Leal, Gabriela F., de Oliveira, João Ricardo Mendes

“…Raine syndrome is a rare, often lethal autosomal recessive condition marked by congenital malformations that range in severity. Considering that several case…”
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Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings by Silveira, Cynthia, Leal, Gabriela F., Cavalcanti, Denise P.

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DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation by 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

“…Mutations in KDM5C (lysine (K)-specific demethylase 5C) were causally associated with up to 3% of X-linked intellectual disability (ID) in males. By exome and…”
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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 by 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

“…The 22q11.2 deletion is the most frequent interstitial deletion in humans and presents a wide phenotypic spectrum, with over 180 clinical manifestations…”
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Clinical Features in Patients with 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities by 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.

“…Objectives The aim of this study was to describe clinical features in subjects with palatal abnormalities and to assess the distribution of these features…”
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van den Ende–Gupta syndrome: Evidence for genetic heterogeneity by Leal, Gabriela F., Silva, Elias O.

“…van den Ende–Gupta syndrome is characterized by craniofacial and skeletal manifestations, mainly malar and/or maxillary hypoplasia, blepharophimosis,…”
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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? by Leal, Gabriela F., Silva, Elias O., Duarte, Andréa R., Campos, João F.

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Three additional cases of the Michels syndrome by Leal, Gabriela F., Baptista, Eduardo V.P.

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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 by Gabriela F. Leal

“…OBJETIVOS: descrever os aspectos clínicos de três famílias pernambucanas com microcefalia primária autossômica recessiva e as análises de ligação em uma delas…”
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Microcefalia primária autossômica recessiva em três famílias pernambucanas: aspectos clínicos e moleculares by Leal, Gabriela F.

“…OBJETIVOS: descrever os aspectos clínicos de três famílias pernambucanas com microcefalia primária autossômica recessiva e as análises de ligação em uma delas…”
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Poland anomaly with foot symbrachydactyly by Silva, Elias O., Leal, Gabriela F., Carvalho, Valentina N.

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Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings by Silveira, Cynthia, Leal, Gabriela F, Cavalcanti, Denise P

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Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred by LEAL, GABRIELA F, DA-SILVA, ELIAS O

“…On immunohistochemical staining of frozen muscle sections using double labelling reactions for dystrophin + [GAMMA]-SG, α-SG + β-SG, and [GAMMA]-SG + δ-SG,…”
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van den Ende-Gupta syndrome: Evidence for genetic heterogeneity by Leal, Gabriela F., Silva, Elias O.

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Poland anomaly with foot symbrachydactyly by Silva, Elias O, Leal, Gabriela F, Carvalho, Valentina N

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