نتائج البحث - "Vaglio, Alicia"

المصدر: Revista Médica del Uruguay, Vol 27, Iss 3, Pp 129-137 (2011)
Revista Médica del Uruguay, Volume: 27, Issue: 3, Pages: 129-137, Published: SEP 2011

مصطلحات موضوعية: lcsh:R5-920, lcsh:R, lcsh:Medicine, CYSTIC FIBROSIS, fibrosis quística, lcsh:Medicine (General), FIBROSIS QUÍSTICA

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2b407d7b61ff3dbe4c9df2b21bb67b5b
https://revista.rmu.org.uy/ojsrmu311/index.php/rmu/article/view/380

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8

Academic Journal

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

المصدر: American Journal of Medical Genetics Part A ; volume 158A, issue 9, page 2139-2151 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.35502
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.35502
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.35502

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9

Academic Journal

Antenatal Diagnosis of De Novo Balanced Structural Chromosomal Aberrations in Latin America.

المصدر: MEDICC Review; Oct2018, Vol. 20 Issue 4, p27-34, 8p, 1 Diagram, 5 Charts

مصطلحات موضوعية: CHROMOSOME analysis, CHROMOSOME abnormalities -- Risk factors, DNA analysis, AMNIOTIC liquid, CHORIONIC villi, CHROMOSOME abnormalities, CYTOGENETICS, CORD blood, GENETIC counseling, SCIENTIFIC observation, PATHOLOGICAL laboratories, PREGNANT women, PRENATAL diagnosis, PUERPERIUM, RISK assessment, PHENOTYPES, RETROSPECTIVE studies

مصطلحات جغرافية: COLOMBIA, COSTA Rica, CUBA, MEXICO, URUGUAY, LATIN America

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10

Academic Journal

Clinical, Cytogenetic, and Molecular Characterization of a Girl with Some Clinical Features of Down Syndrome Resulting from a Pure Partial Trisomy 21q22.11-qter Due to a De Novo Intrachromosomal Duplication

المؤلفون: Vaglio, Alicia, Milunsky, Aubrey, Quadrelli, Andrea, Huang, Xin-Li, Maher, Thomas, Mechoso, Búrix, Martínez, Susana, Pagano, Sinthia, Bellini, Sylvia, Costabel, Mariana, Quadrelli, Roberto

المصدر: Genetic Testing and Molecular Biomarkers ; volume 14, issue 1, page 57-65 ; ISSN 1945-0265 1945-0257

الاتاحة: http://dx.doi.org/10.1089/gtmb.2009.0067
http://www.liebertpub.com/doi/full-xml/10.1089/gtmb.2009.0067
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2009.0067

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11

Academic Journal

A 14-Year Follow-Up of a Case Detected Prenatally of Partial Trisomy 13q21.32-qter and Monosomy 18q22.3-qter as a Result of a Maternal Complex Chromosome Rearrangement Involving Chromosomes 6, 13, and 18

المؤلفون: Quadrelli, Roberto, Quadrelli, Andrea, Milunsky, Aubrey, Zou, Ying S., Huang, Xin-Li, Viera, Estela, Mechoso, Búrix, Bellini, Sylvia, Costabel, Mariana, Vaglio, Alicia

المصدر: Genetic Testing and Molecular Biomarkers ; volume 13, issue 3, page 387-393 ; ISSN 1945-0265 1945-0257

الاتاحة: http://dx.doi.org/10.1089/gtmb.2008.0120
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2008.0120

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12

Academic Journal

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

المؤلفون: Rock, Matthew J, Prenen, Jean, Funari, Vincent A, Funari, Tara L, Merriman, Barry, Nelson, Stanley F, Lachman, Ralph S, Wilcox, William R, Reyno, Soraya, Quadrelli, Roberto, Vaglio, Alicia, Owsianik, Grzegorz, Janssens, Annelies, Voets, Thomas, Ikegawa, Shiro, Nagai, Toshiro, Rimoin, David L, Nilius, Bernd, Cohn, Daniel H

مصطلحات موضوعية: cation channel trpv4, genetic-disorders, differentiation, chondrocytes, modulation, activation, expression, dysplasia, skeleton

Relation: Nature Genetics vol:40 issue:8 pages:999-1003; https://lirias.kuleuven.be/handle/123456789/200182; https://lirias.kuleuven.be/bitstream/123456789/200182/2//Nature+Genetics.pdf

الاتاحة: https://lirias.kuleuven.be/handle/123456789/200182
https://lirias.kuleuven.be/bitstream/123456789/200182/2//Nature+Genetics.pdf

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13

Academic Journal

A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter→22q12.1: Clinical, cytogenetic and molecular observations

المؤلفون: Vaglio, Alicia, Milunsky, Aubrey, Huang, Xin-Li, Quadrelli, Andrea, Mechoso, Búrix, Maher, Thomas A., Quadrelli, Roberto

المصدر: European Journal of Medical Genetics ; volume 51, issue 4, page 332-342 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2008.01.001
https://api.elsevier.com/content/article/PII:S1769721208000189?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721208000189?httpAccept=text/plain

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14

Academic Journal

A de novo Complex Chromosome Rearrangement Involving Chromosomes 2, 3, 5, 9 and 11 Detected Prenatally and Studied Postnatally by Conventional Cytogenetics and Molecular Cytogenetic Analyses

المؤلفون: Mechoso, Búrix, Vaglio, Alicia, Quadrelli, Andrea, Mark, Hon Fong L., Huang, Xin-Li, Milunsky, Aubrey, Quadrelli, Roberto

المصدر: Fetal Diagnosis and Therapy ; volume 22, issue 4, page 249-253 ; ISSN 1015-3837 1421-9964

الاتاحة: http://dx.doi.org/10.1159/000100784
https://www.karger.com/Article/Pdf/100784

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15

Academic Journal

A Girl with del(4)(q33) And Occipital Encephalocele: Clinical Description And Molecular Genetic Characterization of A Rare Patient

المؤلفون: Quadrelli, Roberto, Strehle, Eugen M., Vaglio, Alicia, Larrandaburu, Mariela, Mechoso, Búrix, Quadrelli, Andrea, Fan, Yao-Shan, Huang, Taosheng

المصدر: Genetic Testing ; volume 11, issue 1, page 4-10 ; ISSN 1090-6576 1557-7473

الاتاحة: http://dx.doi.org/10.1089/gte.2006.9995
http://www.liebertpub.com/doi/pdf/10.1089/gte.2006.9995

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16

Academic Journal

A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: Clinical, cytogenetic and molecular observations

المؤلفون: Vaglio, Alicia, Milunsky, Aubrey, Huang, Xin-Li, Quadrelli, Andrea, Mechoso, Búrix, Quadrelli, Roberto

المصدر: European Journal of Medical Genetics ; volume 50, issue 3, page 224-232 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2007.01.001
https://api.elsevier.com/content/article/PII:S1769721207000092?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721207000092?httpAccept=text/plain

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17

Síndrome de pterigium múltiple: recurrencia en una familia

المؤلفون: Larrandaburu, Mariela, Vaglio, Alicia, Lemes, Aída, Quadrelli, Andrea, Quadrelli, Roberto

المصدر: Archivos de Pediatría del Uruguay, Volume: 80, Issue: 4, Pages: 284-290, Published: DEC 2009

مصطلحات موضوعية: SÍNDROME, ABNORMALITIES, MULTIPLE, ARTHROGRYPOSIS, ANOMALÍAS MÚLTIPLES, PTERIGION-genética, ARTROGRIPOSIS-genética, PTERYGIUM-genetics, SYNDROME, GENETIC DISEASES, INBORN, ENFERMEDADES GENÉTICAS CONGÉNITAS

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______615::20fba282486e68328451d09dc169d541
http://www.scielo.edu.uy/scielo.php?script=sci_arttext&pid=S1688-12492009000400005&lng=en&tlng=en

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18

Un fenotipo clínicamente reconocible: síndrome alfa-talasemia con retraso mental ligado al cromosoma X (ATR-X). Análisis clínico y molecular en dos hermanos

المؤلفون: Lemes, Aída, Quadrelli, Andrea, Ferolla, Cristina, Bonaglia, Rosario, Larrandaburu, Mariela, Vaglio, Alicia, Quadrelli, Roberto

المصدر: Archivos de Pediatría del Uruguay, Volume: 80, Issue: 2, Pages: 123-128, Published: JUN 2009

مصطلحات موضوعية: MENTAL RETARDATION, X-LINKED, HEMOGLOBINA H, ALFATALASEMIA, RETRASO MENTAL LIGADO AL CROMOSOMA X, ALPHA-THALASSEMIA, HEMOGLOBIN H

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______615::718e6d953b419d6aa16e19003fe522be
http://www.scielo.edu.uy/scielo.php?script=sci_arttext&pid=S1688-12492009000200008&lng=en&tlng=en

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19

Academic Journal

Parental decisions to abort or continue a pregnancy following prenatal diagnosis of chromosomal abnormalities in a setting where termination of pregnancy is not legally available

المؤلفون: Quadrelli, Roberto, Quadrelli, Andrea, Mechoso, Búrix, Laufer, Mauricio, Jaumandreu, Ciro, Vaglio, Alicia

المصدر: Prenatal Diagnosis ; volume 27, issue 3, page 228-232 ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/pd.1651
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.1651
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.1651

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20

Academic Journal

Prenatal and Postnatal Characterization of a De Novo Xq22.1 Terminal Deletion

المؤلفون: Vaglio, Alicia, Greif, Gonzalo, Bernal, Mery, Sanguinetti, Carlos, Mechoso, Búrix, Quadrelli, Andrea, Tucci, Paula, Milunsky, Jeff M., Huang, Xin-Li, Pagano, Sinthia, Quadrelli, Roberto

المصدر: Genetic Testing ; volume 10, issue 4, page 272-276 ; ISSN 1090-6576 1557-7473

الاتاحة: http://dx.doi.org/10.1089/gte.2006.10.272
http://www.liebertpub.com/doi/pdf/10.1089/gte.2006.10.272

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