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Quoted phrase not found in phrase index: "Intellectual developmental disorder, autosomal dominant 72"
Page 1
Diagnostic and therapeutic aspects of hemiplegic migraine.
Di Stefano V, Rispoli MG, Pellegrino N, Graziosi A, Rotondo E, Napoli C, Pietrobon D, Brighina F, Parisi P. Di Stefano V, et al. J Neurol Neurosurg Psychiatry. 2020 Jul;91(7):764-771. doi: 10.1136/jnnp-2020-322850. Epub 2020 May 19. J Neurol Neurosurg Psychiatry. 2020. PMID: 32430436 Free PMC article. Review.
Hemiplegic migraine (HM) is a clinically and genetically heterogeneous condition with attacks of headache and motor weakness which may be associated with impaired consciousness, cerebellar ataxia and intellectual disability. Motor symptoms usually last <72 …
Hemiplegic migraine (HM) is a clinically and genetically heterogeneous condition with attacks of headache and motor weakness which may be as …
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.
Ng SY, Luk HM, Hau EW, Cheng SS, Yu KP, Ho S, Mok MT, Lo IF. Ng SY, et al. Eur J Med Genet. 2022 Oct;65(10):104573. doi: 10.1016/j.ejmg.2022.104573. Epub 2022 Jul 31. Eur J Med Genet. 2022. PMID: 35918040
Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder with autosomal dominant inheritance. We performed mutation analyses on 123 Chinese patients with "definite TSC" according to the latest diagnostic criteria. Pathogenic / likely-pathog …
Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder with autosomal dominant inheritance. We per …
Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.
Zhao J, Lyu G, Ding C, Wang X, Li J, Zhang W, Yang X, Zhang VW. Zhao J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1825. doi: 10.1002/mgg3.1825. Epub 2022 Feb 14. Mol Genet Genomic Med. 2022. PMID: 35156329 Free PMC article.
METHODS: We retrospectively analyzed the clinical information and genetic testing results of a Rahman syndrome family in an outpatient clinic in August 2020 and summarized the clinical characteristics of the HIST1H1E gene mutations in conjunction with peer-reviewed reports. RESUL …
METHODS: We retrospectively analyzed the clinical information and genetic testing results of a Rahman syndrome family in an outpatient clini …
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
López M, García-Oguiza A, Armstrong J, García-Cobaleda I, García-Miñaur S, Santos-Simarro F, Seidel V, Domínguez-Garrido E. López M, et al. BMC Med Genet. 2018 Mar 5;19(1):36. doi: 10.1186/s12881-018-0548-2. BMC Med Genet. 2018. PMID: 29506490 Free PMC article.
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. ...RESULTS: Eight patients were found to carry EP300 mutations. Phenotypic characteristics included: intellect …
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by …
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Schlögel MJ, Mendola A, Fastré E, Vasudevan P, Devriendt K, de Ravel TJ, Van Esch H, Casteels I, Arroyo Carrera I, Cristofoli F, Fieggen K, Jones K, Lipson M, Balikova I, Singer A, Soller M, Mercedes Villanueva M, Revencu N, Boon LM, Brouillard P, Vikkula M. Schlögel MJ, et al. Orphanet J Rare Dis. 2015 May 2;10:52. doi: 10.1186/s13023-015-0271-4. Orphanet J Rare Dis. 2015. PMID: 25934493 Free PMC article.
BACKGROUND: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intel …
BACKGROUND: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal …
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Cleaver R, Berg J, Craft E, Foster A, Gibbons RJ, Hobson E, Lachlan K, Naik S, Sampson JR, Sharif S, Smithson S; Deciphering Developmental Disorders Study; Parker MJ, Tatton-Brown K. Cleaver R, et al. Am J Med Genet A. 2019 Mar;179(3):344-349. doi: 10.1002/ajmg.a.61024. Epub 2019 Jan 13. Am J Med Genet A. 2019. PMID: 30637921 Review.
Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. ...This genotype-up approach has allowed further refinement of the Primrose syndrome phenotype. Major characteristics (>90% individuals) include an …
Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. ...This genot …
Short fourth toes in Rett syndrome: a biological indicator.
Kerr AM, Mitchell JM, Robertson PE. Kerr AM, et al. Neuropediatrics. 1995 Apr;26(2):72-4. doi: 10.1055/s-2007-979726. Neuropediatrics. 1995. PMID: 7566456
Classic Rett syndrome is now well-known as a non-dysmorphic developmental disorder almost certainly of genetic origin. Short 4th toe (uni- or bi-lateral) is inherited as an autosomal dominant with 27% penetrance and is found also in certain dysmorphic …
Classic Rett syndrome is now well-known as a non-dysmorphic developmental disorder almost certainly of genetic origin. Short 4 …
First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia.
Fazio G, Massa V, Grioni A, Bystry V, Rigamonti S, Saitta C, Galbiati M, Rizzari C, Consarino C, Biondi A, Selicorni A, Cazzaniga G. Fazio G, et al. J Clin Pathol. 2019 Aug;72(8):558-561. doi: 10.1136/jclinpath-2019-205707. Epub 2019 Apr 4. J Clin Pathol. 2019. PMID: 30948435
Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant genetic disorder characterised by prenatal and postnatal growth and mental retardation, facial dysmorphism and upper limb abnormalities. ...
Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant genetic disorder characterised by prenatal and postnatal …
A genetic-diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience.
Dereymaeker AM, Fryns JP, Haegeman J, Deroover J, Van den Berghe H. Dereymaeker AM, et al. Clin Genet. 1988 Aug;34(2):126-34. doi: 10.1111/j.1399-0004.1988.tb02848.x. Clin Genet. 1988. PMID: 2973379
The etiological study was based on a clinical genetic approach with special attention to dysmorphology and neurological findings. In 72 patients a constitutional cause of their mental impairment was found: a chromosomal abnormality in 21, a Mendelian disorder in 36 …
The etiological study was based on a clinical genetic approach with special attention to dysmorphology and neurological findings. In 72 …