Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report

Authors: Betina Biagetti, Irene Valenzuela, Ariadna Campos-Martorell, Berta Campos, Sara Hernandez, Marina Giralt, Noelia Díaz-Troyano, Emilio Iniesta-Serrano, Diego Yeste, Rafael Simó

Source: Diagnostics, Vol 13, Iss 13, p 2259 (2023)

Subject Terms: short stature, genetics, macimorelin, GHS-R, ADAMTS, ADAMTS17, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/2075-4418/13/13/2259; https://doaj.org/toc/2075-4418

Access URL: https://doaj.org/article/8f63673b4573472290fc26efb38110ce

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Sex Ratio Distortion in Offspring of Families with BRCA1 or BRCA2 Mutant Alleles: An Ascertainment Bias Phenomenon?

Authors: Judith Balmaña, Orland Díez, Berta Campos, Magdalena Majewski, Judit Sanz, Carmen Alonso, Montserrat Baiget, Judy E. Garber

Source: Breast Cancer Research & Treatment; Aug2005, Vol. 92 Issue 3, p273-277, 5p

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effectsCommunicated by Ellen Solomon.

Authors: Orland Díez, Ana Osorio, Mercedes Durán, José Ignacio Martinez-Ferrandis, Miguel de la Hoya, Raquel Salazar, Ana Vega, Berta Campos, Raquel Rodríguez-López, Eladio Velasco, Javier Chaves, Eduardo Díaz-Rubio, Juan Jesús Cruz, María Torres, Eva Esteban, Andrés Cervantes, Carmen Alonso, Juan Manuel San Román, Rogelio González-Sarmiento, Cristina Miner

Source: Human Mutation; Oct2003, Vol. 22 Issue 4, p301, 12p

Subject Terms: BREAST cancer, OVARIAN cancer, GENETIC mutation, GENETICS

Geographic Terms: SPAIN

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RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from SpainCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #647 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/647.pdf

Authors: Berta Campos, Orland Díez, Montserrat Domènech, Manel Baena, Judith Balmaña, Judit Sanz, Amaya Ramírez, Carmen Alonso, Montserrat Baiget

Source: Human Mutation; Oct2003, Vol. 22 Issue 4, p337, 1p

Subject Terms: BREAST cancer, GENETIC mutation, GENES, DNA, MESSENGER RNA

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #604 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf)

Authors: Berta Campos, Orland Díez, Fabrice Odefrey, Montserrat Domènech, Virginie Moncoutier, José Ignacio Martínez-Ferrandis, Ana Osorio, Judith Balmaña, Alicia Barroso, María Eugenia Armengod, Javier Benítez, Carmen Alonso, Dominique Stoppa-Lyonnet, David Goldgar, Montserrat Baiget

Source: Human Mutation; Apr2003, Vol. 21 Issue 4, p452-452, 1p

Subject Terms: GENETIC mutation, BREAST cancer research, OVARIAN cancer, GENETIC disorders

Geographic Terms: SPAIN, FRANCE

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from SpainCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #604 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf

Authors: Berta Campos, Orland Díez, Fabrice Odefrey, Montserrat Domènech, Virginie Moncoutier, José Ignacio Martínez?Ferrandis, Ana Osorio, Judith Balmaña, Alicia Barroso, María Eugenia Armengod, Javier Benítez, Carmen Alonso, Dominique Stoppa?Lyonnet, David Goldgar, Montserrat Baiget

Source: Human Mutation; Apr2003, Vol. 21 Issue 4, p452-452, 1p

Subject Terms: BREAST cancer research, OVARIAN cancer, MICROSATELLITE repeats, GENETIC mutation

Geographic Terms: SPAIN, FRANCE