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Genetics and Inheritance

Publications

2024

Gabaldon-Albero, A, Mayo, S, Martinez, F (2024).

NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies

International Journal Of Molecular Sciences. Review. 25(10).
[doi:10.3390/ijms25105198]
del Barrio, SR, Fernández, AG, Quesada-Espinosa, JF, Sánchez-Calvín, MT, Gómez-Manjón, I, Sierra-Tomillo, O, Juárez-Rufián, A, Gutiérrez, JD (2024).

Genetic diagnosis of childhood sensorineural hearing loss

ACTA OTORRINOLARINGOLOGICA ESPANOLA. Article. 75(2):83-93.
[doi:10.1016/j.otorri.2023.07.002]
Bada-Bosch, T, Sevillano, AM, Sánchez-Calvin, MT, Palma-Milla, C, de Cáceres, IA, Díaz-Crespo, F, Trujillo, H, Alonso, M, Cases-Corona, C, Shabaka, A, Quesada-Espinosa, JF, Lezana-Rosales, JM, Gutiérrez, E, Fernández-Juárez, G, Caravaca-Fontán, F, Praga, M (2024).

Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome

NEPHROLOGY DIALYSIS TRANSPLANTATION. Article.
[doi:10.1093/ndt/gfae002]

2023

Rodríguez-García, ME, Cotrina-Vinagre, FJ, Sánchez-Calvin, MT, de Aragón, AM, de Las Heras, RS, Dinman, JD, de Vries, BBA, Sá, MJN, Quijada-Fraile, P, Martínez-Azorín, F (2023).

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

JOURNAL OF HUMAN GENETICS. Article. 68(8):543-550.
[doi:10.1038/s10038-023-01150-4]
Bellido-Cuéllar, S, de la Fuente, RP, Lezana-Rosales, JM, Sánchez-Calvín, MT, Saiz-Díaz, RA, de la Aleja, JG (2023).

Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY. Editorial Material. 110:117-118.
[doi:10.1016/j.seizure.2023.06.008]
Mayo, S, Gómez-Manjón, I, Marco-Hernández, AV, Fernández-Martínez, FJ, Camacho, A, Martínez, F (2023).

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants

International Journal Of Molecular Sciences. Review. 24(7).
[doi:10.3390/ijms24076100]
Soengas-Gonda, E, de la Fuente, RP, Arteche-Lopez, A, Gomez-Cano, MD, Quesada-Espinosa, JF, Milla, CP, Rosales, JML, de Andres, SM, Sanchez-Calvin, MT, Gomez-Rodriguez, MJ, Tomillo, OS, Rufian, AJ, Gomez, PR, Herrero-Forte, C, Fenollar-Cortes, M, Cotarelo-Perez, C, Ron, AG, Rodriguez, OP, Oancea-Ionescu, R, Moreno-Garcia, M (2023).

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families

Neuropediatrics. Article. 54(01):31-36.
[doi:10.1055/a-1947-8411]

2022

Segarra-Casas A, Domínguez-González C, Hernández-Laín A, Sanchez-Calvin MT, Camacho A, Rivas E, Campo-Barasoain A, Madruga M, Ortez C, Natera-de Benito D, Nascimento A, Codina A, Rodriguez MJ, Gallano P, Gonzalez-Quereda L (2022).

Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.

JOURNAL OF MEDICAL GENETICS. Article. 60(6):615-619.
[doi:10.1136/jmg-2022-108828]
Ortuno-Costela, MD, Cerrada, V, Moreno-Izquierdo, A, Garcia-Consuegra, I, Laberthonniere, C, Delourme, M, Garesse, R, Arenas, J, Garcia, CF, Garcia, GG, Millan, JM, Magdinier, F, Gallardo, ME (2022).

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Article. 23(22).
[doi:10.3390/ijms232213964]
Gómez-Rodríguez MJ, Morales-Conejo M, Arteche-López A, Sánchez-Calvín MT, Quesada-Espinosa JF, Gómez-Manjón I, Palma-Milla C, Lezana-Rosales JM, Pérez de la Fuente R, Martin-Ramos ML, Fernández-Guijarro M, Moreno-García M, Alvarez-Mora MI (2022).

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

Genes. Review. 13(9).
[doi:10.3390/genes13091609]
Mayoral, IH, Martinez-Salio, A, Llamas-Velasco, S, Gomez-Majon, I, Arteche-Lopez, A, Quesada-Espinosa, JF, Milla, CP, Rosales, JML, de la Fuente, RP, Rufian, AJ, Tomillo, OS, Calvin, MTS, Rodriguez, MJG, Gomez, PR, Villarejo-Galende, A, Diaz-Guzman, J, Ortega-Casarrubios, MA, Calleja-Castano, P, Moreno-Garcia, M (2022).

Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling

European Journal of Medical Genetics. Article. 65(8):104539-104539.
[doi:10.1016/j.ejmg.2022.104539]
Mayo S, Gómez-Manjón I, Fernández-Martínez FJ, Camacho A, Martínez F, Benito-León J (2022).

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Review. 23(9).
[doi:10.3390/ijms23094879]
Alvarez-Mora, MI, Blanco-Palmero, VA, Quesada-Espinosa, JF, Arteche-Lopez, AR, Llamas-Velasco, S, Milla, CP, Rosales, JML, Gomez-Manjon, I, Hernandez-Lain, A, Almonacid, JJ, Gil-Fournier, B, Ramiro-Leon, S, Gonzalez-Sanchez, M, Herrero-San Martin, AO, Perez-Martinez, DA, Gomez-Tortosa, E, Carro, E, Bartolome, F, Gomez-Rodriguez, MJ, Sanchez-Calvin, MT, Villarejo-Galende, A, Moreno-Garcia, M (2022).

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

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Article. 23(8).
[doi:10.3390/ijms23084230]

2021

Arteche-López A, Álvarez-Mora MI, Sánchez Calvin MT, Lezana Rosales JM, Palma Milla C, Gómez Rodríguez MJ, Gomez Manjón I, Blázquez A, Juarez Rufián A, Ramos Gómez P, Sierra Tomillo O, Hidalgo Mayoral I, Pérez de la Fuente R, Posada Rodríguez IJ, González Granado LI, Martin MA, Quesada-Espinosa JF, Moreno-García M (2021).

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.

EUROPEAN JOURNAL OF HUMAN GENETICS. Article. 29(10):1520-1526.
[doi:10.1038/s41431-021-00919-5]
Quesada-Espinosa, JF, Garzon-Lorenzo, L, Lezana-Rosales, JM, Gomez-Rodriguez, MJ, Sanchez-Calvin, MT, Palma-Milla, C, Gomez-Manjon, I, Hidalgo-Mayoral, I, de la Fuente, RP, Arteche-Lopez, A, Alvarez-Mora, MI, Camacho-Salas, A, Cruz-Rojo, J, Lazaro-Rodriguez, I, Morales-Conejo, M, Nunez-Enamorado, N, Bustamante-Aragones, A, de las Heras, RS, Gomez-Cano, MA, Ramos-Gomez, P, Sierra-Tomillo, O, Juarez-Rufian, A, Gallego-Merlo, J, Rausell-Sanchez, L, Moreno-Garcia, M, del Pozo, JS (2021).

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

NEUROGENETICS. Article. 22(4):343-346.
[doi:10.1007/s10048-021-00660-7]
Mayo S, Gómez-Manjón I, Fernández-Martínez FJ, Camacho A, Martínez F, Benito-León J (2021).

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Review. 22(11).
[doi:10.3390/ijms22115609]
Mayo, S, Monfort, S (2021).

Breastfeeding and COVID-19 Vaccine: Yes We Can

JOURNAL OF HUMAN LACTATION. Letter. 37(2):275-276.
[doi:10.1177/08903344211004443]
Arteche-Lopez, A, Rodriguez, MJG, Calvin, MTS, Quesada-Espinosa, JF, Rosales, JML, Milla, CP, Gomez-Manjon, I, Mayoral, IH, de la Fuente, RP, de Bustamante, AD, Darnaude, MT, Gil-Fournier, B, Leon, SR, Gomez, PR, Tomillo, OS, Rufian, AJ, Cano, MIA, Alonso, RV, Morales-Perez, P, Segura-Tudela, A, Camacho, A, Nunez, N, Simon, R, Moreno-Garcia, M, Alvarez-Mora, MI (2021).

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

Genes. Article. 12(4).
[doi:10.3390/genes12040560]
Moreno-Garcia, M, Arteche-Lopez, AR, Alvarez-Mora, MI, Milla, CP, Espinosa, JFQ, Rosales, JML, Calvin, MTS, Manjon, IG, Rodriguez, MJG, Mendez-Guerrero, A, Villarejo-Galende, A (2021).

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Article. 185(2):591-595.
[doi:10.1002/ajmg.a.61999]

2020

Cerrada, V, Garcia-Lopez, M, Alvarez-Galeano, S, Moreno-Izquierdo, A, Lucia, A, Rabasa Pérez M, Arenas, J, Gallardo, ME (2020).

Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg.

STEM CELL RESEARCH. Article. 49:102108-102108.
[doi:10.1016/j.scr.2020.102108]

2019

de la Hoz, CPDF, Hernandez-Lain, A, Olive, M, Sanchez-Calvin, MT, Gonzalo-Martinez, JF, Dominguez-Gonzalez, C (2019).

Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations

BRAIN. Letter. 142(12).
[doi:10.1093/brain/awz317]
Cerrada, V, Garcia-Lopez, M, Moreno-Izquierdo, A, Villaverde, C, Zurita, O, Martin-Merida, MI, Arenas, J, Ayuso, C, Gallardo, ME (2019).

Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys.

STEM CELL RESEARCH. Article. 40:101566-101566.
[doi:10.1016/j.scr.2019.101566]
Tous-Romero, F, Vico-Alonso, C, Calleja-Algarra, A, Sanchez-Calvin, MT, Palencia-Perez, S (2019).

Thick nails, plantar keratoderma, follicular hyperkeratosis, and leukokeratosis associated with a novel mutation in KRT6A gene

INTERNATIONAL JOURNAL OF DERMATOLOGY. Letter. 58(4):89-90.
[doi:10.1111/ijd.14333]
Garcia-Giordano L, Paraiso-Medina S, Alonso-Calvo R, Fernández-Martínez FJ, Maojo V (2019).

genoDraw: A Web Tool for Developing Pedigree Diagrams Using the Standardized Human Pedigree Nomenclature Integrated with Biomedical Vocabularies.

Amia ... Annual Symposium Proceedings. Amia Symposium. Article. 2019:457-466.

2018

Zurita-Diaz F, Ortuno-Costela MDC, Moreno-Izquierdo A, Galbis L, Millan JM, Ayuso C, Garesse R, Gallardo ME (2018).

Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G > T; p.Cys759Phe in the USH2A gene

STEM CELL RESEARCH. Editorial Material. 31:152-156.
[doi:10.1016/j.scr.2018.08.002]
Tous-Romero F, Quesada-Espinosa JF, Sanchez-Calvin MT, Ortiz-Romero PL, Palencia-Perez S (2018).

PIK3CA-related overgrowth spectrum: concurrence of multiple anomalies in one patient.

JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT. Letter. 16(5):603-605.
[doi:10.1111/ddg.13487]
Tous-Romero, F, Quesada-Espinosa, JF, Sanchez-Calvin, MT, Ortiz-Romero, PL, Palencia-Perez, S (2018).

PIK3CA-assoziiertes Uberwuchsspektrum: gleichzeitiges Auftreten mehrerer Anomalien bei einem Patienten.

JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT. Letter. 16(5):603-605.
[doi:10.1111/ddg.13487_g]
Mayo S, Gomez-Manjon I, Moreno-Izquierdo A, Moreno-Garcia M, Fernandez-Martinez FJ (2018).

Epileptic encephalopathy in the infant: the priority is a good genetic study

REVISTA DE NEUROLOGIA. Letter. 66(9):324-324.
[doi:10.33588/rn.6609.2018071]
Ortuno-Costela MDC, Moreno-Izquierdo A, Garesse R, Gallardo ME (2018).

Generation of a human iPSC line, IISHDOi002-A, with a 46, XY/47, XYY mosaicism and belonging to an African mitochondrial haplogroup

STEM CELL RESEARCH. Editorial Material. 28:131-135.
[doi:10.1016/j.scr.2018.02.009]
Gomez-Manjon, I, Moreno-Izquierdo, A, Mayo, S, Moreno-Garcia, M, Delmiro, A, Escribano, D, Fernandez-Martinez, FJ (2018).

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield

BIOMED RESEARCH INTERNATIONAL. Article. 2018:9498140-9498140.
[doi:10.1155/2018/9498140]

2017

Zurita-Díaz F, Galera-Monge T, Moreno-Izquierdo A, Corton M, Ayuso C, Garesse R, Gallardo ME (2017).

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the; mutation in the OPA1 gene: c.1635C> A; p.Ser545Arg

STEM CELL RESEARCH. Editorial Material. 24:81-84.
[doi:10.1016/j.scr.2017.08.017]
Ortuno-Costela, MD, Rodriguez-Mancera, N, Garcia-Lopez, M, Zurita-Diaz, F, Moreno-Izquierdo, A, Lucia, A, Martin, MA, Garesse, R, Gallardo, ME (2017).

Establishment of a human iPSC line (IISHDOi001-A) from a patient with; McArdle disease

STEM CELL RESEARCH. Editorial Material. 23:188-192.
[doi:10.1016/j.scr.2017.07.020]

2016

Galera-Monge T, Zurita-Díaz F, González-Páramos C, Moreno-Izquierdo A, Fraga MF, Fernández AF, Garesse R, Gallardo ME (2016).

Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene.

STEM CELL RESEARCH. Editorial Material. 16(3):766-769.
[doi:10.1016/j.scr.2016.04.012]
Galera-Monge T, Zurita-Díaz F, Moreno-Izquierdo A, Fraga MF, Fernández AF, Ayuso C, Garesse R, Gallardo ME (2016).

Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.

STEM CELL RESEARCH. Editorial Material. 16(3):673-676.
[doi:10.1016/j.scr.2016.03.011]
Galera, Teresa, Zurita, Francisco, Gonzalez-Paramos, Cristina, Moreno-Izquierdo A, Fraga, Mario F., Fernandez, Agustin F., Garesse, Rafael, Esther Gallardo, M. (2016).

Generation of a human iPSC line from a patient with Leigh syndrome

STEM CELL RESEARCH. Editorial Material. 16(1):63-66.
[doi:10.1016/j.scr.2015.12.005]
Galera, Teresa, Zurita, Francisco, Gonzalez-Paramos, Cristina, Moreno-Izquierdo A, Fraga, Mario F., Fernandez, Agustin F., Garesse, Rafael, Esther Gallardo, M. (2016).

Generation of a human control iPSC line with a European mitochondrial haplogroup U background

STEM CELL RESEARCH. Editorial Material. 16(1):88-91.
[doi:10.1016/j.scr.2015.12.010]
Zurita, Francisco, Galera, Teresa, Gonzalez-Paramos, Cristina, Moreno-Izquierdo A, Schneiderat, Peter, Fraga, Mario F., Fernandez, Agustin F., Garesse, Rafael, Esther Gallardo, M. (2016).

Generation of a human iPSC line from a patient with a defect of intergenomic communication

STEM CELL RESEARCH. Editorial Material. 16(1):120-123.
[doi:10.1016/j.scr.2015.12.016]
Zurita-Diaz, Francisco, Galera-Monge, Teresa, Moreno-Izquierdo A, Fraga, Mario F., Ayuso, C., Fernandez, Agustin F., Garesse, Rafael, Esther Gallardo, M. (2016).

Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.

STEM CELL RESEARCH. Editorial Material. 16(1):124-127.
[doi:10.1016/j.scr.2015.12.019]

2015

Natera-De Benito, Daniel, Vidal-Esteban, Arantxa, Sanchez-Del Pozo, Jaime, Moreno-Garcia, Marta, Suela-Rubio, Javier, Cruz-Rojo, Jaime, Jose Rivero-Martin, Maria (2015).

Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes

REVISTA DE NEUROLOGIA. Article. 61(12):550-556.
[doi:10.33588/rn.6112.2015381]

2014

Parés-Pollán L, Gonzalez-Quintana A, Docampo-Cordeiro J, Vargas-Gallego C, García-Álvarez G, Ramos-Rodríguez V, Diaz Rubio-García MP (2014).

Utilidad del análisis modal de fallos y efectos para la detección de errores en el transporte de muestras al laboratorio clínico.

REVISTA DE CALIDAD ASISTENCIAL. Abstract of Published Item. 29(4):197-203.
[doi:10.1016/j.cali.2014.03.001]

2013

Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P, de Las Heras RS, Moreno-Izquierdo A, Martín MA, Arenas J, Martínez-Azorín F (2013).

Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome

HUMAN MUTATION. Article. 34(12):1623-1627.
[doi:10.1002/humu.22445]

2012

Moreno-Garcia, Marta, Sanchez del Pozo, Jaime, Cruz-Rojo, Jaime, Javier Fernandez-Martinez, Francisco, Perez-Nanclares Leal, Guiomar (2012).

Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review

CLINICAL DYSMORPHOLOGY. Article. 21(3):172-176.
[doi:10.1097/MCD.0b013e3283539fe5]
Alonso S, Ferrero E, Donat M, Martínez G, Vargas C, Hidalgo M, Moreno E (2012).

The usefulness of high pre-operative levels of serum type I collagen bone markers for the prediction of changes in bone mineral density after parathyroidectomy

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. Article. 35(7):640-644.
[doi:10.3275/7923]
Martinez, G., Guadalix, S., Vargas, C., Garcia, E., Manrique, A., Partida, M., Moreno, E., Hawkins, F. (2012).

Serum levels of osteocalcin and 25OH-vitamin D in patients with abnormal glucose tolerance after liver transplantation

Bone. Meeting Abstract. 50(1):102-102.
[doi:10.1016/j.bone.2012.02.308]
Javier Fernandez-Martinez, F., Galindo, Alberto, Garcia-Burguillo, Antonio, Vargas-Gallego, Carmela, Nogues, Nuria, Moreno-Garcia, Marta, Moreno-Izquierdo A (2012).

Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study

GENETICS IN MEDICINE. Article. 14(1):101-106.
[doi:10.1038/gim.2011.8]

2011

Guadalix, Sonsoles, Martinez-Diaz-Guerra, Guillermo, Lora, David, Vargas, Carmela, Gomez-Juaristi, Miren, Cobaleda, Belen, Moreno Gonzalez, Enrique, Hawkins, Federico (2011).

Effect of early risedronate treatment on bone mineral density and bone turnover markers after liver transplantation: a prospective single-center study

TRANSPLANT INTERNATIONAL. Article. 24(7):657-665.
[doi:10.1111/j.1432-2277.2011.01253.x]
Martinez-Conde, L., Guadalix, S., Vargas, C., Martinez Diaz-Guerra, G., Hawkins, F. (2011).

Comparative study of two P1NP determinig chemiluminescence methods in candidates for liver transplant

Bone. Meeting Abstract. 48(2):146-146.
[doi:10.1016/j.bone.2011.03.307]

2010

Macias, Maria I., Grande, Jesus, Moreno, Ana, Dominguez, Irene, Bornstein, Rafael, Flores, Ana I. (2010).

Isolation and characterization of true mesenchymal stem cells derived from human term decidua capable of multilineage differentiation into all 3 embryonic layers

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY. Article. 203(5).
[doi:10.1016/j.ajog.2010.06.045]
Belar, Oihana, Sanchez del Pozo, Jaime, Moreno-Garcia, Marta, Cruz-Rojo, Jaime, Garin, Intza, Perez de Nanclares, Guiomar (2010).

Clinical Characterization of a Girl With Trisomy 20q13.2qter and Monosomy 13q33.1qter: Delineating Phenotype-Genotype Correlations

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Letter. 152A(11):2901-2905.
[doi:10.1002/ajmg.a.33679]
Garcia, E., Martinez, G., Calatayud, M., Sanchez, R., Partida, M., Vargas, C., Hawkins, F. (2010).

Hypovitaminosis D and Macrovascular Complications in Diabetic Patients.

ENDOCRINE REVIEWS. Meeting Abstract. 31(3, 1).
Guadalix, Sonsoles, Martinez, Guillermo, Vargas, Carmela, Sanchez, Raquel, Partida, Miriam, Moreno, Enrique, Hawkins, Federico (2010).

Effects of Risedronate on Bone Mineral Density and Bone Metabolic Markers in Patients with Liver Transplantation.

ENDOCRINE REVIEWS. Meeting Abstract. 31(3, 1).

Palma, C, Patricia, PM, Lezana, JM, Cruz, J, Quesada, JF, Vila, S, Alvarez-Mora, I, Arteche-Lopez, A, Gomez-Manjon, I, Sanchez, MT, Gomez-Rodriguez, MJ, Sanchez, J, Moreno-Garcia, M ().

A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome

Journal of Pediatric Genetics. Article.
[doi:10.1055/s-0041-1728650]
Martinez-Cayuelas, E, Blanco-Kelly, F, Lopez-Grondona, F, Swafiri, ST, Lopez-Rodriguez, R, Losada-Del Pozo, R, Mahillo-Fernandez, I, Moreno, B, Rodrigo-Moreno, M, Casas-Alba, D, Lopez-Gonzalez, A, Garcia-Minaur, S, Mori, MA, Pacio-Minguez, M, Rikeros-Orozco, E, Santos-Simarro, F, Cruz-Rojo, J, Quesada-Espinosa, JF, Sanchez-Calvin, MT, Sanchez-Del Pozo, J, Fonz, RB, Isidoro-Garcia, M, Ruiz-Ayucar, I, Alvarez-Mora, MI, Blanco-Lago, R, De Azua, B, Eiris, J, Garcia-Penas, JJ, Gil-Fournier, B, Gomez-Lado, C, Irazabal, N, Lopez-Gonzalez, V, Madrigal, I, Malaga, I, Martinez-Menendez, B, Ramiro-Leon, S, Garcia-Hoyos, M, Prieto-Matos, P, Lopez-Pison, J, Aguilera-Albesa, S, Alvarez, S, Fernandez-Jaen, A, Llano-Rivas, I, Gener-Querol, B, Ayuso, C, Arteche-Lopez, A, Palomares-Bralo, M, Cueto-Gonzalez, A, Valenzuela, I, Martinez-Monseny, A, Lorda-Sanchez, I, Almoguera, B ().

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

JOURNAL OF MEDICAL GENETICS. Article.
[doi:10.1136/jmg-2022-108632]