Works by Palma-Milla, Carmen

Results: 14

De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature.

Published in:

2021

By:

Espino‐Hernández, Mar;
Palma Milla, Carmen;
Vara‐Martín, Julia;
González‐Granado, Luis I;
Espino-Hernández, Mar;
Vara-Martín, Julia;
González-Granado, Luis I

Publication type:

Case Study

Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.

Published in:

Nephrology Dialysis Transplantation, 2024, v. 39, n. 8, p. 1288, doi. 10.1093/ndt/gfae002

By:

Bada-Bosch, Teresa;
Sevillano, Angel M;
Sánchez-Calvin, María Teresa;
Palma-Milla, Carmen;
Cáceres, Ignacio Alba de;
Díaz-Crespo, Francisco;
Trujillo, Hernando;
Alonso, Marina;
Cases-Corona, Clara;
Shabaka, Amir;
Quesada-Espinosa, Juan Francisco;
Lezana-Rosales, José Miguel;
Gutiérrez, Eduardo;
Fernández-Juárez, Gema;
Caravaca-Fontán, Fernando;
Praga, Manuel

Publication type:

Article

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 646, doi. 10.1111/cge.14701

By:

Trujillano, Laura;
Valenzuela, Irene;
Costa‐Roger, Mar;
Cuscó, Ivon;
Fernandez‐Alvarez, Paula;
Cueto‐González, Anna;
Lasa‐Aranzasti, Amaia;
Masotto, Bárbara;
Abulí, Anna;
Codina‐Solà, Marta;
del Campo, Miguel;
Ruiz Moreno, Juan Antonio;
Pardo Domínguez, Cristina;
Palma Milla, Carmen;
Pérez de la Fuente, Rubén;
Quesada‐Espinosa, Juan Francisco;
Núñez‐Enamorado, Noemí;
Gener, Blanca;
Ballesta‐Martínez, María Juliana;
Brea‐Fernández, Alejandro J.

Publication type:

Article

Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.

Published in:

Annals of Human Genetics, 2018, v. 82, n. 6, p. 425, doi. 10.1111/ahg.12272

By:

Palma Milla, Carmen;
Lezana Rosales, José Miguel;
López Montiel, Javier;
Andrés Garrido, Lucas David;
Sánchez Linares, Carlos;
Carmona Tamajón, Sandra;
Torres Fernández, Carmen;
Sánchez González, Pablo;
Franco Freire, Sara;
Benito López, Carmen;
López Siles, Juan

Publication type:

Article

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).

Published in:

2022

By:

Serrano-Lorenzo, Pablo;
Rabasa, María;
Esteban, Jesús;
Hidalgo Mayoral, Irene;
Domínguez-González, Cristina;
Blanco-Echevarría, Agustín;
Garrido-Moraga, Rocío;
Lucia, Alejandro;
Blázquez, Alberto;
Rubio, Juan C.;
Palma-Milla, Carmen;
Arenas, Joaquín;
Martín, Miguel A.

Publication type:

Case Study

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.

Published in:

2022

By:

Gómez-Rodríguez, Maria Jose;
Morales-Conejo, Montserrat;
Arteche-López, Ana;
Sánchez-Calvín, Maria Teresa;
Quesada-Espinosa, Juan Francisco;
Gómez-Manjón, Irene;
Palma-Milla, Carmen;
Lezana-Rosales, Jose Miguel;
Pérez de la Fuente, Ruben;
Martin-Ramos, Maria-Luisa;
Fernández-Guijarro, Manuela;
Moreno-García, Marta;
Alvarez-Mora, Maria Isabel

Publication type:

Case Study

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Published in:

Genes, 2021, v. 12, n. 4, p. 560, doi. 10.3390/genes12040560

By:

Arteche-López, Ana;
Gómez Rodríguez, Maria José;
Sánchez Calvin, Maria Teresa;
Quesada-Espinosa, Juan Francisco;
Lezana Rosales, Jose Miguel;
Palma Milla, Carmen;
Gómez-Manjón, Irene;
Hidalgo Mayoral, Irene;
Pérez de la Fuente, Rubén;
Díaz de Bustamante, Arancha;
Darnaude, María Teresa;
Gil-Fournier, Belén;
Ramiro León, Soraya;
Ramos Gómez, Patricia;
Sierra Tomillo, Olalla;
Juárez Rufián, Alexandra;
Arranz Cano, Maria Isabel;
Villares Alonso, Rebeca;
Morales-Pérez, Pablo;
Segura-Tudela, Alejandro

Publication type:

Article

Myotonia congenita: mutation spectrum of <bold>CLCN1</bold> in Spanish patients.

Published in:

Journal of Genetics, 2019, v. 98, n. 3, p. N.PAG, doi. 10.1007/s12041-019-1115-0

By:

Palma Milla, Carmen;
Prior De Castro, Carmen;
Gómez-González, Clara;
Martínez-Montero, Paloma;
I. Pascual Pascual, Samuel;
Molano Mateos, Jesús

Publication type:

Article

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4230, doi. 10.3390/ijms23084230

By:

Alvarez-Mora, Maria Isabel;
Blanco-Palmero, Victor Antonio;
Quesada-Espinosa, Juan Francisco;
Arteche-Lopez, Ana Rosa;
Llamas-Velasco, Sara;
Palma Milla, Carmen;
Lezana Rosales, Jose Miguel;
Gomez-Manjon, Irene;
Hernandez-Lain, Aurelio;
Jimenez Almonacid, Justino;
Gil-Fournier, Belén;
Ramiro-León, Soraya;
González-Sánchez, Marta;
Herrero-San Martín, Alejandro Octavio;
Pérez-Martínez, David Andrés;
Gómez-Tortosa, Estrella;
Carro, Eva;
Bartolomé, Fernando;
Gomez-Rodriguez, Maria Jose;
Sanchez-Calvin, María Teresa

Publication type:

Article

Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021, v. 22, n. 7/8, p. 552, doi. 10.1080/21678421.2021.1927101

By:

Llamas-Velasco, Sara;
Arteche-López, Ana;
Méndez-Guerrero, Antonio;
Puertas Martín, Verónica;
Quesada Espinosa, Juan Francisco;
Lezana Rosales, Jose Miguel;
González-Sánchez, Marta;
Blanco-Palmero, Victor Antonio;
Palma Milla, Carmen;
Herrero-San Martín, Alejandro;
Borrego-Hernández, Daniel;
García-Redondo, Alberto;
Pérez-Martínez, David Andrés;
Villarejo-Galende, Alberto

Publication type:

Article

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 343, doi. 10.1007/s10048-021-00660-7

By:

Quesada-Espinosa, Juan F.;
Garzón-Lorenzo, Lucía;
Lezana-Rosales, José M.;
Gómez-Rodríguez, María J.;
Sánchez-Calvin, María T.;
Palma-Milla, Carmen;
Gómez-Manjón, Irene;
Hidalgo-Mayoral, Irene;
Pérez de la Fuente, Rubén;
Arteche-López, Ana;
Álvarez-Mora, María I.;
Camacho-Salas, Ana;
Cruz-Rojo, Jaime;
Lázaro-Rodríguez, Irene;
Morales-Conejo, Montserrat;
Nuñez-Enamorado, Noemí;
Bustamante-Aragones, Ana;
Simón de las Heras, Rogelio;
Gomez-Cano, María A.;
Ramos-Gómez, Patricia

Publication type:

Article

The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes.

Published in:

2019

By:

Garcia Rodriguez, Raquel;
Garcia Cruz, Loida;
Novoa Medina, Yeray;
Garcia Delgado, Raquel;
Perez Gonzalez, Julio;
Palma Milla, Carmen;
Lopez Siles, Juan;
Medina Castellano, Margarita;
Garcia Hernandez, Jose Angel;
Santana Rodriguez, Alfredo

Publication type:

journal article

First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 591, doi. 10.1002/ajmg.a.61999

By:

Moreno‐García, Marta;
Arteche‐López, Ana Rosa;
Álvarez‐Mora, María Isabel;
Palma Milla, Carmen;
Quesada Espinosa, Juan Francisco;
Lezana Rosales, José Miguel;
Sánchez Calvín, María Teresa;
Gómez Manjón, Irene;
Gómez Rodríguez, María José;
Mendez‐Guerrero, Antonio;
Villarejo‐Galende, Alberto

Publication type:

Article

Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 544, doi. 10.1002/ajmg.a.37440

By:

Carrasco Salas, Pilar;
Palma Milla, Carmen;
Lezana Rosales, José Miguel;
Benito, Carmen;
Franco Freire, Sara;
López Siles, Juan

Publication type:

Article