Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Guillermo Pacheco Cuellar"'
Autor:
José Alberto Carlos-Escalante, Ángel Antonio Paz-López, Bernardo Cacho-Díaz, Guillermo Pacheco-Cuellar, Gervith Reyes-Soto, Talia Wegman-Ostrosky
Publikováno v:
World neurosurgery. 164
Benign tumors that grow in the spinal canal are heterogeneous neoplasms with low incidence; from these, meningiomas and nerve sheath tumors (neurofibromas and schwannomas) account for 60%-70% of all primary spinal tumors. Benign spinal canal tumors p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f1bbc87bffc4b0a0f76406e3687238a
https://pubmed.ncbi.nlm.nih.gov/35552036
https://pubmed.ncbi.nlm.nih.gov/35552036
Publikováno v:
Cancer Research. 80:P6-08
Background. Hereditary predisposition explains 10-15% of Breast cancer (BC), individuals carrying germline BRCA1 andBRCA2 mutations have a 46-87% lifetime risk for BC. According to ACOG, Genetic Cascade Testing (GCT) refers to the performance of gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb74f1e149ceb833df5a5b605b469122
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-27
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-27
Autor:
Marzena Wisniewska, Sirinart Molidperee, Juliet M. Taylor, Philippe M. Campeau, Tabib Dabir, Eliane Beauregard-Lacroix, Maria Vittoria Camurri, Jessica Tardif, Yolande van Bever, Sanjay M. Sisodiya, Klaus Dieterich, Pernille Mathiesen Tørring, Guillermo Pacheco-Cuellar, Ed Blair, Alexandre Dionne-Laporte, Dina Vind-Kezunovic, Dénes Zádori, Claudia Castiglioni, Norbert F. Ajeawung, Lisbeth Tranebjærg, Susan M. White, Raoul C.M. Hennekam
Publikováno v:
Genetics in medicine, 23(1), 149-154. Lippincott Williams and Wilkins
Genetics in Medicine, 23(1), 149-154. Lippincott Williams & Wilkins
Genetics in Medicine, 23(1), 149-154. Lippincott Williams & Wilkins
Purpose: Biallelic variants in TBC1D24, which encodes a protein that regulates vesicular transport, are frequently identified in patients with DOORS (deafness, onychodystrophy, osteodystrophy, intellectual disability [previously referred to as mental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5e948fc5b0b30ab20979f39cf6d2a25
https://doi.org/10.1038/s41436-020-00950-9
https://doi.org/10.1038/s41436-020-00950-9
Autor:
Valérie Désilets, Hélène Decaluwe, F. Rypens, Victor Kokta, Françoise Le Deist, Dorothée Dal Soglio, Michel Duval, Christian Lachance, Marlène Lemire-Girard, Guillermo Pacheco-Cuellar, Philippe M. Campeau, Julie Gauthier, Elie Haddad
Publikováno v:
Journal of Bone and Mineral Research. 32:1853-1859
Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia. Exome sequencing has led to the identification of new CDG genes. Immune and skeletal phenotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c542b1d2bb7aa2b7f4b342d1ca62dde7
https://doi.org/10.1002/jbmr.3173
https://doi.org/10.1002/jbmr.3173
Autor:
Philippe M. Campeau, Norbert F. Ajeawung, Guillermo Pacheco-Cuellar, Thi Tuyet Mai Nguyen, Nissan V. Baratang, Daniel Alexander Jimenez Cruz
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Background Glycophosphatidylinositol‐anchored proteins (GPI‐APs) mediate several physiological processes such as embryogenesis and neurogenesis. Germline variants in genes involved in their synthesis can disrupt normal development and result in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0137e7f4eaa1fdbe835cc30cc7c724d0
https://pubmed.ncbi.nlm.nih.gov/31127708
https://pubmed.ncbi.nlm.nih.gov/31127708
Autor:
Alexandre Dionne-Laporte, Marzena Wisniewska, Raoul C.M. Hennekam, Susan M. White, Ed Blair, Sirinart Molidperee, Dina Vind-Kezunovic, Lisbeth Tranebjærg, Guillermo Pacheco-Cuellar, Jessica Tardif, Klaus Dieterich, Eliane Beauregard-Lacroix, Maria Vittoria Camurri, Claudia Castiglioni, Pernille Mathiesen Tørring, Juliet M. Taylor, Tabib Dabir, Yolande van Bever, Norbert F. Ajeawung, Philippe M. Campeau, Sanjay M. Sisodiya, Dénes Zádori
Publikováno v:
Genetics in Medicine. 23:237
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbc203fc5cde1e488a760d7ffd58a8bf
https://doi.org/10.1038/s41436-020-00969-y
https://doi.org/10.1038/s41436-020-00969-y
Autor:
Ignacio Babayán-Mena, Guillermo Pacheco Cuellar, Olga Messina Baas, Héctor Urueta-Cuellar, Ma Refugio Rivera-Vega, Silvia Fanny Lara Huerta, Luz María González-Huerta, Jaime Toral-López, Sergio A. Cuevas-Covarrubias
Publikováno v:
Current eye research. 39(11)
The β adrenergic receptors (ADRB) are expressed in the ciliary body and trabecular meshwork, structures involved in aqueous humor production and outflow, respectively. ADRB are members of the adrenergic family of G-protein-coupled receptors. Topic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac401ba7b53c4814fa4ee77276dcc1d
https://pubmed.ncbi.nlm.nih.gov/24749907
https://pubmed.ncbi.nlm.nih.gov/24749907
Autor:
J. M. Valdés-Miranda, Sergio A. Cuevas-Covarrubias, J. Cazarin-Barrientos, L M González-Huerta, Guillermo Pacheco-Cuellar, H. Peláez-González, S. Zenteno-Bacheron
Publikováno v:
Journal of neurology. 258(10)
Mutations in the WNK1/HSN2 (with-no-lysine(K)-1/ hereditary sensory neuropathy 2) gene cause autosomal recessive HSAN2 [1, 2]. HSAN2, an early onset ulceromutilating sensory neuropathy, is clinically characterized by impairment of pain, temperature,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e23e6edcdaa6940a1a6fde13e8d975b1
https://pubmed.ncbi.nlm.nih.gov/21847616
https://pubmed.ncbi.nlm.nih.gov/21847616
Autor:
Norma Celia González-Huerta, Luz María González-Huerta, Sergio A. Cuevas-Covarrubias, Juan Manuel Valdés-Miranda, Guillermo Pacheco-Cuellar, Adrián Pérez-Cabrera
Publikováno v:
The journal of maternal-fetalneonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 23(7)
Objective. To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene.Study design. Case report.Results. We detected in a pregnant woman an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::565953edaa743e1698702a84cda7c039
https://pubmed.ncbi.nlm.nih.gov/20064076
https://pubmed.ncbi.nlm.nih.gov/20064076