A. Fernández-Jaén

发表

Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings

T. Pihlajaniemi, S. López-Martín, J. Albert, 2022, Neurocase.

Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang–Wang syndrome

T. Ke, Chengqi Xu, D. Bartholdi, 2022, Acta physiologica.

Emotional distraction in boys with ADHD: Neural and behavioral correlates

L. Carretié, S. López-Martín, J. Albert, 2013, Brain and Cognition.

Cingulate Cortical Thickness and Dopamine Transporter (DAT1) Genotype in Children and Adolescents With ADHD

S. López-Martín, J. Albert, D. Fernández-Mayoralas, 2018, Journal of attention disorders.

Response to methylphenidate by adult and pediatric patients with attention-deficit/hyperactivity disorder: the Spanish multicenter DIHANA study

A. Fernández-Jaén, M. Idiazábal-Alecha, J. Valdizán-Usón, 2013, Neuropsychiatric disease and treatment.

Migraine Symptoms Related to the Percutaneous Closure of An Ostium Secundum Atrial Septal Defect: Report of Four Paediatric Cases and Review of the Literature

B. Calleja-Pérez, A. Fernández-Jaén, F. Gutiérrez‐Larraya, 2007, Cephalalgia : an international journal of headache.

High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies

M. Butler, S. K. Rafi, S. Álvarez, 2019, International journal of molecular sciences.

Cortical thickness at the time of the initial attack in two patients with paediatric relapsing-remitting multiple sclerosis.

J. Albert, D. Fernández-Mayoralas, M. Jiménez de la Peña, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Cortical thickness differences in the prefrontal cortex in children and adolescents with ADHD in relation to dopamine transporter (DAT1) genotype

S. López-Martín, J. Albert, M. R. Rodríguez, 2015, Psychiatry Research: Neuroimaging.

GIGYF1 disruption associates with autism and impaired IGF-1R signaling

E. Eichler, D. M. Martin, R. Earl, 2022, The Journal of clinical investigation.

Cortical thickness in fetal alcohol syndrome and attention deficit disorder.

J. García-Segura, D. Fernández-Mayoralas, B. Calleja-Pérez, 2011, Pediatric neurology.

A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression

P. Duminuco, A. Cariboni, V. Vezzoli, 2022, International journal of molecular sciences.

DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems.

S. Álvarez, A. Fernández-Jaén, A. L. Fernández Perrone, 2022, Neurologia.

Effect of an autism-associated KCNMB2 variant, G124R, on BK channel properties

A. Meredith, S. Álvarez, A. Fernández-Jaén, 2022, Current research in physiology.

In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI)

D. Fernández-Mayoralas, A. Fernández-Jaén, A. L. Fernández-Perrone, 2014, Journal of child neurology.

Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.

T. Ouchi, E. So, J. Albert, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Meralgia Paresthetica in the Pediatric Population: A Propos of 2 Cases

D. Fernández-Mayoralas, A. Fernández-Jaén, A. G. Sola, 2010, Journal of child neurology.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of LBX

Karl R. Wotton, J. Cigudosa, J. Suela, 2014, American journal of medical genetics. Part A.

Clinical delineation of the PACS1‐related syndrome—Report on 19 patients

M. Hurles, J. Schuurs-Hoeijmakers, B. D. de Vries, 2016, American journal of medical genetics. Part A.

The development of selective stopping: Qualitative and quantitative changes from childhood to early adulthood.

J. Hinojosa, R. Olmos, S. López-Martín, 2021, Developmental science.

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism

A. Noegel, P. Nürnberg, M. Jackson, 2021, Genes.

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

W. Chung, Q. Waisfisz, B. Gelb, 2020, American journal of human genetics.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Stephanie E. Vallee, J. Rosenfeld, C. Haldeman-Englert, 2015, European Journal of Human Genetics.

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

B. Hallgrímsson, E. Bonora, F. Brancati, 2021, bioRxiv.

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.

Abnormal frontal gyrification pattern and uncinate development in patients with KGB syndrome caused by ANKRD11 aberrations.

S. López-Martín, J. Albert, M. Jiménez de la Peña, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature.

A. Fernández-Jaén, N. Muñoz-Jareño, D. Fernández‐Mayoralas, 2009, Pediatric neurology.

Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome

J. Albert, A. Fernández-Jaén, A. L. Fernández-Perrone, 2014, American journal of medical genetics. Part A.

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Arthur S. Lee, Hiromi Hirata, D. Baralle, 2019, Human mutation.

Atomoxetine for attention deficit hyperactivity disorder in mental retardation.

A. Fernández-Jaén, N. Muñoz Jareño, D. Fernández‐Mayoralas, 2010, Pediatric neurology.

[Munchausen syndrome by proxy: report of one case with epilepsy].

A. Martínez-Bermejo, A. Fernández-Jaén, I. Pascual‐Castroviejo, 1998, Revista de neurologia.

A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation

Junhai Han, S. López-Martín, J. Albert, 2021, Applied neuropsychology. Child.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.

A. Vanderver, J. Fish, T. Pierson, 2020, Pediatric neurology.

[Bacterial meningitis in pediatrics. Study of 166 cases].

A. Fernández-Jaén, P. Peña García, F. del Castillo Martín, 1998, Anales espanoles de pediatria.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Generalized Mechanical Nerve Pain Hypersensitivity in Children With Episodic Tension-type Headache

C. Fernández‐de‐las‐Peñas, R. Ortega-Santiago, R. Jiménez-García, 2010, Pediatrics.

Bilateral, wide-spread, mechanical pain sensitivity in children with frequent episodic tension-type headache suggesting impairment in central nociceptive processing

C. Fernández‐de‐las‐Peñas, R. Ortega-Santiago, S. Ambite-Quesada, 2010, Cephalalgia : an international journal of headache.

[Syringomyelia, Chiari's malformation and scoliosis in a patient with type 1 neurofibromatosis].

A. Fernández-Jaén, I. Pascual‐Castroviejo, B. Calleja‐Pérez, 1998, Anales espanoles de pediatria.

Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion

S. López-Martín, A. Fernández-Jaén, A. L. Fernández-Perrone, 2014, Child's Nervous System.

Functional and structural deficiencies of Gemin5 variants associated with neurological disorders

Deepa S Rajan, F. del Caño-Ochoa, S. Ramón-Maiques, 2022, Life Science Alliance.

Functional and structural deficiencies of Gemin5 variants associated with neurological disease

Deepa S Rajan, S. Ramón-Maiques, E. Martínez-Salas, 2022, bioRxiv.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

[Neuroimaging in attention deficit hyperactivity disorder].

J. García-Segura, J M García-Segura, A. Fernández-Jaén, 2010, Revista de neurologia.

[Gradenigo's syndrome: the importance of general pediatric examination].

A. Fernández-Jaén, D. Fernández-Mayoralas, I. Bodegas Canora, 2011, Anales de pediatria.

Selective Inhibitory Control in Middle Childhood

J. Hinojosa, S. López-Martín, J. Albert, 2021, International journal of environmental research and public health.

A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy

Á. Almeida, S. Álvarez, A. Fernández-Jaén, 2019, Journal of neurochemistry.

Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia

A. Fernández-Jaén, A. L. Fernández-Perrone, R. Cano-Alonso, 2014, Journal of child neurology.

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

F. Benfenati, P. Striano, C. Depienne, 2021, Neurology.

Treatment With Paliperidone in Children With Behavior Disorders Previously Treated With Risperidone: An Open-Label Trial

A. Fernández-Jaén, A. L. Fernández-Perrone, N. Muñoz-Jareño, 2012, Clinical neuropharmacology.

Health care and societal costs of the management of children and adolescents with attention-deficit/hyperactivity disorder in Spain: a descriptive analysis

J. Alda, J. Martínez-Raga, J. Ramos-Quiroga, 2018, BMC Psychiatry.

The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

F. McKenzie, Mahim Jain, B. Kamien, 2020, American journal of medical genetics. Part A.

De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment

S. Álvarez, A. Fernández-Jaén, D. Fernández‐Mayoralas, 2020 .

Jansen-de Vries syndrome. First case diagnosed in Spain

A. Fernández-Jaén, A. L. Fernández-Perrone, D. Fernández‐Mayoralas, 2021 .

Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review

Mónica Mártinez-García, S. López-Martín, J. Albert, 2021, Molecular Syndromology.

Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly

V. Bennett, Yong-hui Jiang, S. Álvarez, 2019, Proceedings of the National Academy of Sciences.

Cortical thinning of temporal pole and orbitofrontal cortex in medication-naïve children and adolescents with ADHD

Sara López-Martín, Jacobo Albert, S. López-Martín, 2014, Psychiatry Research: Neuroimaging.

Clinical and cognitive response to extended-release methylphenidate (Medikinet®) in attention deficit/hyperactivity disorder: Efficacy evaluation

A. Fernández-Jaén, N. Muñoz Jareño, D. Fernández‐Mayoralas, 2009, Advances in therapy.

Affective neuroscience of ADHD: Current data and future directions

L. Carretié, S. López-Martín, J. Albert, 2010 .

Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability

Marie-Anne Goyette, J. Côté, Mónica Mártinez-García, 2021, Small GTPases.

Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly

F. Alkuraya, S. Lindsay, S. Lisgo, 2021, Journal of Medical Genetics.

Emotional response inhibition in children with attention-deficit/hyperactivity disorder: neural and behavioural data

L. Carretié, S. López-Martín, J. Albert, 2015, Psychological Medicine.

Jansen-de Vries syndrome. First case diagnosed in Spain.

A. Fernández-Jaén, A. L. Fernández-Perrone, A. Jiménez de Domingo, 2020, Neurología.

An open-label, prospective study of levetiracetam in children and adolescents with Tourette syndrome.

A. Fernández-Jaén, N. Muñoz-Jareño, D. Fernández‐Mayoralas, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

DYNC1H1de novo mutation, spinal muscular atrophy and attention problems.

S. Álvarez, A. Fernández-Jaén, A. L. Fernández Perrone, 2021, Neurologia.

ANO3 and early-onset dyskinetic encephalopathy.

Mónica Mártinez-García, S. López-Martín, J. Albert, 2020, European journal of medical genetics.

Expert recommendation: contributions to clinical practice of the new prodrug lisdexamfetamine dimesylate (LDX) in the treatment of attention deficit hyperactivity disorder (ADHD).

J. Alda, J. Ramos-Quiroga, A. Hervás, 2014, Actas espanolas de psiquiatria.

[Schilder's diffuse myelinoclastic sclerosis].

A. Martínez-Bermejo, A. Fernández-Jaén, J. Arcas, 2001, Revista de neurologia.

Efficacy of Atomoxetine for the Treatment of ADHD Symptoms in Patients With Pervasive Developmental Disorders

A. Fernández-Jaén, N. Muñoz-Jareño, S. López-Arribas, 2013, Journal of attention disorders.

Neurofeedback for ADHD: a Critical Review and Suggested Future Directions

S. López-Martín, J. Albert, A. Sánchez-Carmona, 2017, Current Developmental Disorders Reports.

[Alcoholic foetopathy: an update].

A. Fernández-Jaén, D. Martín Fernández-Mayoralas, 2011, Revista de neurologia.

[Genetics applied to clinical practice in neurodevelopmental disorders].

J. Cigudosa, J. Suela, S. López-Martín, 2014, Revista de neurologia.

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features

A. Bayat, P. Lapunzina, F. Santos-Simarro, 2021, Clinical genetics.

Expanding spectrum of electroclinical findings in patients with karyotype 47,XYY

A. Fernández-Jaén, A. L. Fernández-Perrone, D. Fernández‐Mayoralas, 2014, Brain and Development.

Schizencephaly: Pre- and Postnatal Magnetic Resonance Imaging

A. Fernández-Jaén, N. Muñoz-Jareño, M. Recio-Rodríguez, 2010, Journal of child neurology.

Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases

L. Alcaraz, J. Hagman, A. Nemeth, 2021, Molecular Syndromology.

Evaluating Internet information on attention-deficit/hyperactivity disorder (ADHD) treatment: parent and expert perspectives.

Sergio Hernández, C. Soutullo, A. Montoya, 2013, Education for health.

[Attention deficit hyperactivity disorder and its relation to social skills and leadership evaluated with an evaluation system of the behavior of children and adolescents (BASC)].

A. Fernández-Jaén, N. Muñoz-Jareño, S. López-Arribas, 2011, Actas espanolas de psiquiatria.

Clinical Response to Methylphenidate in a Patient With Self-Induced Photosensitive Epilepsy

A. Fernández-Jaén, N. Muñoz Jareño, R. Arroyo-González, 2011, Journal of child neurology.

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.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Maeson S. Latsko, P. Jayakar, K. Štěrbová, 2023, Research square.

Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings

S. López-Martín, J. Albert, I. Rincón-Pérez, 2023, American journal of medical genetics. Part A.

Cortical thickness in fetal alcohol syndrome and attention deficit disorder.

J. García-Segura, A. Fernández-Jaén, N. Muñoz Jareño, 2011, Pediatric neurology.

In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI)

A. Fernández-Jaén, A. L. Fernández-Perrone, N. Muñoz-Jareño, 2014, Journal of child neurology.