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Year Number of Results
1980 1
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1988 4
1989 5
1990 4
1991 1
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1993 7
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1997 20
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3,067 results

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Quoted phrase not found in phrase index: "Dworschak-Punetha neurodevelopmental syndrome"
Page 1
Tourette's syndrome and its borderland.
Stern JS. Stern JS. Pract Neurol. 2018 Aug;18(4):262-270. doi: 10.1136/practneurol-2017-001755. Epub 2018 Apr 10. Pract Neurol. 2018. PMID: 29636375 Review.
The Gilles de la Tourette syndrome (or Tourette's syndrome) has a prevalence of 1% of children with a wide range of severity and associated comorbidities. The last 20 years have seen advances in the understanding of the syndrome's complex genetics and …
The Gilles de la Tourette syndrome (or Tourette's syndrome) has a prevalence of 1% of children with a wide range of severity a …
Leo Kanner and autism: a 75-year perspective.
Harris J. Harris J. Int Rev Psychiatry. 2018 Feb;30(1):3-17. doi: 10.1080/09540261.2018.1455646. Epub 2018 Apr 18. Int Rev Psychiatry. 2018. PMID: 29667863 Review.
In 1943, Leo Kanner published the first systematic description of early infantile autism. He concluded that this was a neurodevelopmental disorder and that 'these children have come into the world with an innate inability to form the usual, biologically provided contact wi …
In 1943, Leo Kanner published the first systematic description of early infantile autism. He concluded that this was a neurodevelopmental …
Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.
Kalsner L, Chamberlain SJ. Kalsner L, et al. Pediatr Clin North Am. 2015 Jun;62(3):587-606. doi: 10.1016/j.pcl.2015.03.004. Epub 2015 Apr 22. Pediatr Clin North Am. 2015. PMID: 26022164 Free PMC article. Review.
Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome, Angelman syndrome, and 15q11-q13 duplication syndrome. ...
Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader- …
Identifying the lost generation of adults with autism spectrum conditions.
Lai MC, Baron-Cohen S. Lai MC, et al. Lancet Psychiatry. 2015 Nov;2(11):1013-27. doi: 10.1016/S2215-0366(15)00277-1. Lancet Psychiatry. 2015. PMID: 26544750 Review.
Autism spectrum conditions comprise a set of early-onset neurodevelopmental syndromes with a prevalence of 1% across all ages. First diagnosis in adulthood has finally become recognised as an important clinical issue due to the increasing awareness of autism, broade …
Autism spectrum conditions comprise a set of early-onset neurodevelopmental syndromes with a prevalence of 1% across all ages. …
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. ...For …
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial featur …
Mitochondrial encephalomyopathy.
Ng YS, McFarland R. Ng YS, et al. Handb Clin Neurol. 2023;195:563-585. doi: 10.1016/B978-0-323-98818-6.00025-X. Handb Clin Neurol. 2023. PMID: 37562887 Review.
Mitochondrial disease is an umbrella term that encompasses a host of clinical syndromes and features caused by in excess of 300 different genetic defects affecting the mitochondrial and nuclear genomes. Patients with mitochondrial disease can present at any age, ranging fr …
Mitochondrial disease is an umbrella term that encompasses a host of clinical syndromes and features caused by in excess of 300 diffe …
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. Tartaglia N, et al. Acta Paediatr. 2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x. Epub 2011 Apr 8. Acta Paediatr. 2011. PMID: 21342258 Free PMC article. Review.
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes …
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter s …
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321323 Free PMC article.
BACKGROUND: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in KMT2E. ...CONCLUSION: Our study, bringing the total of known patients with ODLURO to more than 60 within 2 ye …
BACKGROUND: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, …
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France; Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.
An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). ...We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disea …
An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). .. …
3,067 results