المؤلفون: Vo Van Giau, Vorapun Senanarong, Eva Bagyinszky, Seong Soo A. An, SangYun Kim

المصدر: International Journal of Molecular Sciences, Vol 20, Iss 6, p 1514 (2019)

مصطلحات موضوعية: Alzheimer’s disease, EOAD, next generation sequencing, 50 genes, Thailand, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/20/6/1514; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/cbf1800b77ca4742a8b9fb899a18952b

المؤلفون: Giancarlo Troncone, Daniela Di Giacomo, Antonella Dal Mas, Gemma Bruera, Umberto Malapelle, Francesco Pepe, Enrico Ricevuto, Giuseppe Calvisi, Pasquale Pisapia

المساهمون: Bruera, Gemma, Pepe, Francesco, Malapelle, Umberto, Pisapia, Pasquale, Mas, Antonella Dal, Di Giacomo, Daniela, Calvisi, Giuseppe, Troncone, Giancarlo, Ricevuto, Enrico

المصدر: Oncotarget

مصطلحات موضوعية: 0301 basic medicine, Neuroblastoma RAS viral oncogene homolog, Oncology, medicine.medical_specialty, Bevacizumab, Colorectal cancer, First line, FIr-B/FOx intensive first line triplet chemotherapy plus bevacizumab, medicine.disease_cause, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Triplet chemotherapy, Internal medicine, Genotype, medicine, next generation sequencing, business.industry, metastatic colorectal cancer, RAS/BRAF mutations, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, 50 genes panel, RAS/BRAF mutation, KRAS, business, Research Paper, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ad2696a9e56de9d9d17240dad3ce6a3
https://doi.org/10.18632/oncotarget.25180

المؤلفون: Eva Bagyinszky, SangYun Kim, Vorapun Senanarong, Seong Soo A. An, Vo Van Giau

المصدر: International Journal of Molecular Sciences
Volume 20
Issue 6
International Journal of Molecular Sciences, Vol 20, Iss 6, p 1514 (2019)

مصطلحات موضوعية: Male, 0301 basic medicine, lcsh:Chemistry, Amyloid beta-Protein Precursor, 0302 clinical medicine, Missing heritability problem, PSEN1, Early-onset Alzheimer's disease, Age of Onset, Receptors, Immunologic, Amyotrophic lateral sclerosis, lcsh:QH301-705.5, Spectroscopy, next generation sequencing, Genetics, Membrane Glycoproteins, EOAD, General Medicine, Middle Aged, Thailand, LRRK2, Computer Science Applications, 50 genes, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Female, Alzheimer’s disease, Frontotemporal dementia, Adult, Mutation, Missense, tau Proteins, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Article, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Alzheimer Disease, Presenilin-1, medicine, Humans, Dementia, Physical and Theoretical Chemistry, Molecular Biology, TREM2, business.industry, Organic Chemistry, medicine.disease, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb02c8e8537fd0a07cbe6558b9ca297f
https://doi.org/10.3390/ijms20061514

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المؤلفون: Tabolacci, Elisabetta, M Grazia Pomponi, Roberta, Pietrobono, Alessandra, Terracciano, Chiurazzi, Pietro, Neri, Giovanni

مصطلحات موضوعية: M.D, Kleefstra andHamel, are clinically recognizableand are considered specific (MRXS). On the otherhand, aDNA sample from patient III-1 became available, 2005]. An updated list of these conditions canbe found in the XLMR Update Web site (http://xlmr.interfree.it/home.htm) and in the dedicatedpage at Greenwood Genetic Center (http://www.ggc.org/xlmr.htm). Some XLMR conditions, in many families the only manifestation sharedby patients is mental retardation. Such MRX pedi-grees are sometimes sufficiently large to allowlinkage analysis yielding a significant LOD score thatwill position the responsible gene in a given locationon the X chromosome. More than 80 MRX familieshavebeen reportedand mutationsin at least21XLMRgenes have been found in 24 of those families (http://xlmr.interfree.it/home.htm). Therefore, Grant number:GGP030202, stop mutationINTRODUCTIONX-linked mental retardation (XLMR) is a clinicallyvariable and genetically heterogeneous condition, Largo F. Vito 1, Settore MED/03 - GENETICA MEDICA, linkageanalysis, such asthe fragile X syndrome, due to mutations in more than 50 genes on the Xchromosome [Chiurazzi et al, IL1RAPL1gene, 1993]. Linkage analysis had positionedthe responsible gene in a large interval between theXp telomere and marker DXS7 (Xp11.4). This 43Mbase interval contained too many genes to allow anefficient mutational screening at random. Recently, Universita`Cattolica, Grant sponsor: Conquer Fragile X Foundation, Italy.E-mail: gneri@rm.unicatt.itDOI 10.1002/ajmg.a.31107, at least 50MRX pedigrees are still in search of a gene. TheMRX21 pedigree (Fig. 1) was reported by us in 1993[Kozak et al, Istituto di Genetica Medica, prompting us to reanalyze this pedigree withmarkers distributed in the previously definedXpter-p11.4 critical region. Our attempt relied alsoon the employment of 31 new DNA markers thatfacilitated the definition of a much smaller linkedGrant sponsor: Fondazione Telethon Onlus, Grantnumber: 2004.*Correspondence to: Giovanni Neri, X-linked mental retardation, 00168 Rome, MRX21, stop mutationINTRODUCTIONX-linked mental retardation (XLMR) is a clinicallyvariable and genetically heterogeneous condition,due to mutations in more than 50 genes on the Xchromosome [Chiurazzi et al., 2004, Kleefstra andHamel, 2005]. An updated list of these conditions canbe found in the XLMR Update Web site (http://xlmr.interfree.it/home.htm) and in the dedicatedpage at Greenwood Genetic Center (http://www.ggc.org/xlmr.htm). Some XLMR conditions, such asthe fragile X syndrome, are clinically recognizableand are considered specific (MRXS). On the otherhand, in many families the only manifestation sharedby patients is mental retardation. Such MRX pedi-grees are sometimes sufficiently large to allowlinkage analysis yielding a significant LOD score thatwill position the responsible gene in a given locationon the X chromosome. More than 80 MRX familieshavebeen reportedand mutationsin at least21XLMRgenes have been found in 24 of those families (http://xlmr.interfree.it/home.htm). Therefore, at least 50MRX pedigrees are still in search of a gene. TheMRX21 pedigree (Fig. 1) was reported by us in 1993[Kozak et al., 1993]. Linkage analysis had positionedthe responsible gene in a large interval between theXp telomere and marker DXS7 (Xp11.4). This 43Mbase interval contained too many genes to allow anefficient mutational screening at random. Recently, aDNA sample from patient III-1 became available,prompting us to reanalyze this pedigree withmarkers distributed in the previously definedXpter-p11.4 critical region. Our attempt relied alsoon the employment of 31 new DNA markers thatfacilitated the definition of a much smaller linkedGrant sponsor: Fondazione Telethon Onlus, Grantnumber: 2004.*Correspondence to: Giovanni Neri, M.D., Istituto di Genetica Medica,Universita`Cattolica, Largo F. Vito 1, 00168 Rome, Italy.E-mail: gneri@rm.unicatt.itDOI 10.1002/ajmg.a.31107

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2601::a5f1cb1d21d7d86adfe5e1b6473af262
https://hdl.handle.net/10807/228433

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مصطلحات الفهرس: X-linked mental retardation, MRX21, linkageanalysi, IL1RAPL1gene, stop mutationINTRODUCTIONX-linked mental retardation (XLMR) is a clinicallyvariable and genetically heterogeneous condition,due to mutations in more than 50 genes on the Xchromosome [Chiurazzi et al., 2004, Kleefstra andHamel, 2005]. An updated list of these conditions canbe found in the XLMR Update Web site (http://xlmr.interfree.it/home.htm) and in the dedicatedpage at Greenwood Genetic Center (http://www.ggc.org/xlmr.htm). Some XLMR conditions, such asthe fragile X syndrome, are clinically recognizableand are considered specific (MRXS). On the otherhand, in many families the only manifestation sharedby patients is mental retardation. Such MRX pedi-grees are sometimes sufficiently large to allowlinkage analysis yielding a significant LOD score thatwill position the responsible gene in a given locationon the X chromosome. More than 80 MRX familieshavebeen reportedand mutationsin at least21XLMRgenes have been found in 24 of those families (http://xlmr.interfree.it/home.htm). Therefore, at least 50MRX pedigrees are still in search of a gene. TheMRX21 pedigree (Fig. 1) was reported by us in 1993[Kozak et al., 1993]. Linkage analysis had positionedthe responsible gene in a large interval between theXp telomere and marker DXS7 (Xp11.4). This 43Mbase interval contained too many genes to allow anefficient mutational screening at random. Recently, aDNA sample from patient III-1 became available,prompting us to reanalyze this pedigree withmarkers distributed in the previously definedXpter-p11.4 critical region. Our attempt relied alsoon the employment of 31 new DNA markers thatfacilitated the definition of a much smaller linkedGrant sponsor: Fondazione Telethon Onlu, Grant number:GGP030202, Grant sponsor: Conquer Fragile X Foundation, Grantnumber: 2004.*Correspondence to: Giovanni Neri, M.D., Istituto di Genetica Medica,Universita`Cattolica, Largo F. Vito 1, 00168 Rome, Italy.E-mail: gneri@rm.unicatt.itDOI 10.1002/ajmg.a.31107, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/228433
issue:140
firstpage:482
lastpage:487
numberofpages:6
issueyear:2006
journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A