Cross‐industry interlinkages in employment growth: Evidence from Brazil

Autor: Daniel R. Carvalho, Jean N. Lee

Publikováno v: Review of Development Economics. 26:2021-2039

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::df77921d5a57bc467acf07b477405c0a
https://doi.org/10.1111/rode.12881

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

Autor: Daniel R. Carvalho, Carlos Ferreira, Carlos E. Speck-Martins, Nara Sobreira, Jaime M. Brum

Publikováno v: Am J Med Genet A

Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we rep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3ff8f559eb8d81a23831c25d8e7b8c0
https://doi.org/10.1002/ajmg.a.61614

Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose

Autor: Daniel R. Carvalho, Clovis S. Trad, João M. Pina-Neto

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 64, Iss 2a, Pp 303-305 (2006)

Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XX

Externí odkaz: https://doaj.org/article/120428daefb74aedb044a23b3d73174d

Large Banks and National Credit Cycles

Autor: Nelson Camanho, Daniel R. Carvalho

Publikováno v: SSRN Electronic Journal.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9bc8cc12c12e7056b1a74ab01378f3af
https://doi.org/10.2139/ssrn.3952704

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Autor: Gen Nishimura, Tito Onyekweli, David A. Parry, Bernardo Blanco-Sánchez, Dawn L. Earl, Ganka Douglas, Clare V. Logan, Carlos Ferreira, Bobby G. Ng, Jeremy Wegner, Marte Gjøl Haug, Zöe Powis, Benjamin D. Solomon, Megan T. Cho, Ellen Macnamara, Lynne A. Wolfe, Ann Nordgren, Anna Hammarsjö, Melissa Gabriel, Zhi-Jie Xia, Angela L. Duker, Fulya Taylan, Kelly Radtke, Mariya Kozenko, Daniel R. Carvalho, Prashant Sharma, Hudson H. Freeze, Monte Westerfield, Kazuhiro Aoki, Michael B. Bober, Luis Rohena, Alvaro H Serrano Russi, Jennifer B. Phillips, Coleman T. Turgeon, Aurélie Clément, Giedre Grigelioniene, Tara E. Weixel, John A. Phillips, Rizwan Hamid, May Christine V. Malicdan, David H. Adams, George E. Tiller, Mariska Davids, Cynthia J. Tifft, Kimiyo Raymond, Andrew P. Jackson, Emma Tham, Hanne B Hove, Lauren Brick, Jakob Ek, Heiko Bratke, William G. Wilson, Michael Tiemeyer, William A. Gahl

Publikováno v: 2018, ' A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation ', American Journal of Human Genetics, vol. 103, no. 4, pp. 553-567 . https://doi.org/10.1016/j.ajhg.2018.09.003

The conserved oligomeric Golgi (COG) complex is involved in intracellular vesicular transport, and is composed of eight subunits distributed in two lobes, lobe A (COG1-4) and lobe B (COG5-8). We describe fourteen individuals with Saul-Wilson syndrome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d721b72718fd3c2ac578bb583e21db4b
https://doi.org/10.1016/j.ajhg.2018.09.003