I. Lorda‐Sánchez

发表

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease

E. Vallespín, C. Ayuso, D. Valverde, 2007, Molecular vision.

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2019, Ophthalmology.

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

E. Vallespín, C. Ayuso, R. Riveiro-Álvarez, 2008, Molecular vision.

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation

C. Ayuso, B. Almoguera, F. Blanco-Kelly, 2021, Genes.

Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.

W. Robinson, A. Schinzel, F. Bernasconi, 1995, American journal of human genetics.

A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation.

A. Schinzel, F. Binkert, I. Lorda‐Sánchez, 1991, American journal of human genetics.

Guidelines for genetic study of aniridia.

J. Millán, C. Ayuso, F. Blanco-Kelly, 2013, Archivos de la Sociedad Espanola de Oftalmologia.

Guidelines for genetic study of aniridia

J. Millán, C. Ayuso, F. Blanco-Kelly, 2013 .

New type of mutations in three spanish families with choroideremia.

P. Gómez-Garre, E. Vallespín, C. Ayuso, 2008, Investigative ophthalmology & visual science.

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

P. Lapunzina, J. Nevado, M. Cortón, 2017, PloS one.

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

M. Cortón, E. Carreño, D. Valverde, 2022, npj Genomic Medicine.

Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia

M. Trujillo-Tiebas, L. Soriano-Guillén, M. Fenollar-Cortés, 2014, American Journal of Medical Genetics. Part A.

Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin

A. Bustamante-Aragonés, M. Rodríguez de Alba, Sara Perlado, 2016, PloS one.

Increased Parental Ages and Uniparental Disomy 15: A Paternal Age Effect?

S. Schuffenhauer, H. Knoblauch, S. Langlois, 1993, European journal of human genetics : EJHG.

Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.

C. Ayuso, I. Lorda‐Sánchez, A. Ibáñez, 2000, American journal of medical genetics.

[Holt-Oram syndrome: study of 7 cases].

C. Ayuso, Mónica Mártinez-García, M. García-Hoyos, 2010, Medicina clinica.

Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages.

C. Ayuso, M. García-Hoyos, D. Diego‐Alvarez, 2005, Human reproduction.

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Á. Carracedo, L. Pérez-Jurado, P. Lapunzina, 2021, Genes.

A small and active ring x chromosome in a female with features of Kabuki syndrome

M. Martinez-frias, D. Diego‐Alvarez, M. Martínez-Fernández, 2008, American journal of medical genetics. Part A.

Huntington disease–unaffected fetus diagnosed from maternal plasma using QF‐PCR

C. Ayuso, M. García-Hoyos, C. Ramos, 2003, Prenatal diagnosis.

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

D. Nishimura, C. Ayuso, C. Ramos, 2007, European journal of medical genetics.

Trisomy 2 due to a 3:1 segregation in an abortion studied by QF‐PCR and CGH

C. Ayuso, C. Ramos, D. Diego‐Alvarez, 2005, Prenatal diagnosis.

Reduced recombination and paternal age effect in Klinefelter syndrome

W. Robinson, A. Schinzel, F. Binkert, 1992, Human Genetics.

Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation

C. Ayuso, C. Ramos, A. Giménez, 2000, Ophthalmic genetics.

Increased parental age and number of pregnancies in Klippel–Trenaunay–Weber syndrome

L. Prieto, I. Lorda‐Sánchez, M. Martínez‐Frías, 1998, Annals of human genetics.

Distal deletion of chromosome 13 in a child with the "opitz" GBBB syndrome.

M. Urioste, A. Villa, R. Barrio, 1995, American journal of medical genetics.

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.

M. Urioste, A. Villa, I. Lorda‐Sánchez, 1997, American journal of medical genetics.

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience

C. Ayuso, M. Trujillo-Tiebas, M. Fenollar-Cortés, 2009, Journal of Assisted Reproduction and Genetics.

Genotype-phenotype correlations in a Spanish cohort of 506 families with bi-allelic ABCA4 pathogenic variants.

C. Rivolta, M. Cortón, I. Mahíllo-Fernández, 2020, American journal of ophthalmology.

A maternal inherited translocation t(1;22)(q11;p11) in two infertile brothers.

C. Ayuso, E. Fernández, C. Ramos, 2001, Genetic counseling.

Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.

C. Ayuso, C. Ramos, I. Lorda‐Sánchez, 2000, American journal of medical genetics.

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

C. Ayuso, A. Avila-Fernandez, B. Almoguera, 2021, npj Genomic Medicine.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: A defect expression of a developmental control gene?

M. Urioste, I. Lorda‐Sánchez, E. Burón, 1996, Human Genetics.

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

C. Ayuso, M. García-Hoyos, C. Ramos, 2002, Prenatal diagnosis.

Molecular study of 45,X conceptuses: correlation with clinical findings.

A. Schinzel, F. Binkert, I. Lorda‐Sánchez, 1992, American journal of medical genetics.

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Lago, I. Mahillo, B. Gener, 2022, medRxiv.

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.

C. Ayuso, M. García-Hoyos, D. Cantalapiedra, 2006, Human reproduction.

MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages

C. Ayuso, C. Ramos, D. Diego‐Alvarez, 2007, Prenatal diagnosis.

A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21

S. Antonarakis, M. Petersen, A. Schinzel, 2005, Human Genetics.

Application of Fetal DNA Detection in Maternal Plasma: A Prenatal Diagnosis Unit Experience

C. Ayuso, M. García-Hoyos, M. Trujillo-Tiebas, 2005, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters

C. Ayuso, C. Ramos, J. Díaz-Recasens, 2001, Prenatal diagnosis.

Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA

M. Trujillo-Tiebas, C. Ramos, A. Bustamante-Aragonés, 2014, Clinical case reports.

Two Non-Contiguous Duplications in the DMD Gene in a Spanish Family

C. Ayuso, M. Trujillo-Tiebas, M. Fenollar-Cortés, 2008, Journal of neurogenetics.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

R. Pfundt, H. Le Hir, P. Stoilov, 2017, American journal of human genetics.

Does Bardet-Biedl syndrome have a characteristic face?

C. Ayuso, I. Lorda‐Sánchez, R. Sanz, 2001, Journal of medical genetics.

New approach for the refinement of the location of the X‐chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

C. Ayuso, M. García-Hoyos, D. Cantalapiedra, 2005, American journal of medical genetics. Part A.

Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl.

M. Urioste, A. Villa, I. Lorda‐Sánchez, 1997, American journal of medical genetics.

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

C. Ayuso, C. Ramos, J. Díaz-Recasens, 1999, Prenatal diagnosis.

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis

J. Argente, N. Rezaei, M. Zenker, 2017, Molecular Genetics & Genomic Medicine.

Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid

C. Ayuso, C. Ramos, M. Anabitarte, 2000, Prenatal diagnosis.

Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood

M. Trujillo-Tiebas, A. Bustamante-Aragonés, I. Lorda‐Sánchez, 2013, Diagnostics.

Chromosomal Mosaicism for Isochromosome 11q Confined to CVS Direct Preparations

C. Ayuso, M. Robledo, C. Ramos, 2001, Fetal Diagnosis and Therapy.

Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies

M. Trujillo-Tiebas, J. Gallego-Merlo, I. Lorda‐Sánchez, 2014, Journal of clinical medicine.

Detection of a Paternally Inherited Fetal Mutation in Maternal Plasma by the Use of Automated Sequencing

C. Ayuso, M. García-Hoyos, M. Trujillo-Tiebas, 2006, Annals of the New York Academy of Sciences.

Uniparental origin of sex chromosome polysomies.

H. Moser, A. Schinzel, W. Rosenkranz, 1992, Human Heredity.

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

C. Ayuso, M. García-Hoyos, D. Cantalapiedra, 2005, Molecular vision.

Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.

J. Millán, C. Ayuso, M. García-Hoyos, 2006, Investigative ophthalmology & visual science.

Mutational Screening of the RP 2 and RPGR Genes in Spanish Families with X-Linked Retinitis Pigmentosa

J. Millán, C. Ayuso, M. García-Hoyos, 2006 .

Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report

M. Cortón, B. Almoguera, F. Blanco-Kelly, 2023, Clinical genetics.

Generalized dystonia without Parkinsonism in an LRRK2 carrier

A. Avila-Fernandez, I. Lorda‐Sánchez, P. Garcia-Ruiz, 2022, Clinical Parkinsonism & Related Disorders.

Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism

P. Gómez-Garre, C. Ayuso, M. García-Hoyos, 2003, American journal of medical genetics. Part A.

Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.

N. Carter, M. Ferguson-Smith, W. Robinson, 1995, Journal of Medical Genetics.

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

Lago, I. Mahillo, B. Gener, 2022, Journal of Medical Genetics.

Review Guidelines for Genetic Study of Aniridia

J. Millán, C. Ayuso, C. Villaverde-Montero, 2022 .