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The following term was not found in PubMed: parenti-mignot
Page 1
Tourette syndrome: clinical features, pathophysiology, and treatment.
Johnson KA, Worbe Y, Foote KD, Butson CR, Gunduz A, Okun MS. Johnson KA, et al. Lancet Neurol. 2023 Feb;22(2):147-158. doi: 10.1016/S1474-4422(22)00303-9. Epub 2022 Oct 28. Lancet Neurol. 2023. PMID: 36354027 Free PMC article. Review.
Tourette syndrome is a chronic neurodevelopmental disorder characterised by motor and phonic tics that can substantially diminish the quality of life of affected individuals. ...Potential predictors of patient responses to therapies for Tourette syndrome …
Tourette syndrome is a chronic neurodevelopmental disorder characterised by motor and phonic tics that can substantially dimin …
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
Butler MG, Miller JL, Forster JL. Butler MG, et al. Curr Pediatr Rev. 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. Curr Pediatr Rev. 2019. PMID: 31333129 Free PMC article. Review.
BACKGROUND: Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherited from the paternal chromosome 15q11-q13 region usually from paternal 15q11-q13 deletions (about 60%) or maternal uniparental disomy …
BACKGROUND: Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes i …
Clinical Opinion: The diagnosis and management of suspected fetal growth restriction: an evidence-based approach.
Lees CC, Romero R, Stampalija T, Dall'Asta A, DeVore GA, Prefumo F, Frusca T, Visser GHA, Hobbins JC, Baschat AA, Bilardo CM, Galan HL, Campbell S, Maulik D, Figueras F, Lee W, Unterscheider J, Valensise H, Da Silva Costa F, Salomon LJ, Poon LC, Ferrazzi E, Mari G, Rizzo G, Kingdom JC, Kiserud T, Hecher K. Lees CC, et al. Am J Obstet Gynecol. 2022 Mar;226(3):366-378. doi: 10.1016/j.ajog.2021.11.1357. Epub 2022 Jan 10. Am J Obstet Gynecol. 2022. PMID: 35026129 Free PMC article. Review.
A fetus who is small for gestational age is frequently defined as one with an estimated fetal weight of <10th percentile. This condition has been considered syndromic and has been frequently attributed to fetal growth restriction, a constitutionally small fetus, congeni …
A fetus who is small for gestational age is frequently defined as one with an estimated fetal weight of <10th percentile. This condition …
Practical considerations for the evaluation and management of Attention Deficit Hyperactivity Disorder (ADHD) in adults.
Weibel S, Menard O, Ionita A, Boumendjel M, Cabelguen C, Kraemer C, Micoulaud-Franchi JA, Bioulac S, Perroud N, Sauvaget A, Carton L, Gachet M, Lopez R. Weibel S, et al. Encephale. 2020 Feb;46(1):30-40. doi: 10.1016/j.encep.2019.06.005. Epub 2019 Oct 11. Encephale. 2020. PMID: 31610922 Review.
These disorders encompass a broad spectrum, from mood disorders (unipolar or bipolar), to anxiety disorders, and other neurodevelopmental disorders and personality disorders, especially borderline and antisocial personality disorder. ...The most relevant and validated psyc …
These disorders encompass a broad spectrum, from mood disorders (unipolar or bipolar), to anxiety disorders, and other neurodevelopmental …
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA. Stamou MI, et al. Metabolism. 2018 Sep;86:124-134. doi: 10.1016/j.metabol.2017.10.012. Epub 2017 Nov 3. Metabolism. 2018. PMID: 29108899 Free PMC article. Review.
In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes". ...The clinical spectrum of IGD includes a variety of disorders includi …
In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subse …
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Kline AD, et al. Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Nat Rev Genet. 2018. PMID: 29995837 Free PMC article. Review.
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. ...Although recent advances in ne …
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-d …
From Genetic Testing to Precision Medicine in Epilepsy.
Striano P, Minassian BA. Striano P, et al. Neurotherapeutics. 2020 Apr;17(2):609-615. doi: 10.1007/s13311-020-00835-4. Neurotherapeutics. 2020. PMID: 31981099 Free PMC article. Review.
Epilepsy includes a number of medical conditions with recurrent seizures as common denominator. The large number of different syndromes and seizure types as well as the highly variable inter-individual response to the therapies makes management of this condition oft …
Epilepsy includes a number of medical conditions with recurrent seizures as common denominator. The large number of different syndromes …
Neonatal Abstinence Syndrome: Advances in Diagnosis and Treatment.
Wachman EM, Schiff DM, Silverstein M. Wachman EM, et al. JAMA. 2018 Apr 3;319(13):1362-1374. doi: 10.1001/jama.2018.2640. JAMA. 2018. PMID: 29614184 Review.
The most substantial number of studies of neonatal abstinence syndrome management pertain to nonpharmacologic care-specifically, interventions that promote breastfeeding or encourage parents to room-in with their newborns. ...There is insufficient evidence to suppor …
The most substantial number of studies of neonatal abstinence syndrome management pertain to nonpharmacologic care-specificall …
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Zollino M, et al. Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Clin Genet. 2019. PMID: 30677142 Review.
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. ...Hete …
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial featur …
European clinical guidelines for Tourette syndrome and other tic disorders-version 2.0. Part I: assessment.
Szejko N, Robinson S, Hartmann A, Ganos C, Debes NM, Skov L, Haas M, Rizzo R, Stern J, Münchau A, Czernecki V, Dietrich A, Murphy TL, Martino D, Tarnok Z, Hedderly T, Müller-Vahl KR, Cath DC. Szejko N, et al. Eur Child Adolesc Psychiatry. 2022 Mar;31(3):383-402. doi: 10.1007/s00787-021-01842-2. Epub 2021 Oct 18. Eur Child Adolesc Psychiatry. 2022. PMID: 34661764 Free PMC article. Review.
In 2011 a working group of the European Society for the Study of Tourette Syndrome (ESSTS) has developed the first European assessment guidelines for Tourette syndrome (TS). Now, we present an updated version 2.0 of these European clinical guidelines for Tourette …
In 2011 a working group of the European Society for the Study of Tourette Syndrome (ESSTS) has developed the first European assessmen …
371 results