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1999 1
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POGZ-related epilepsy: Case report and review of the literature.
Ferretti A, Barresi S, Trivisano M, Ciolfi A, Dentici ML, Radio FC, Vigevano F, Tartaglia M, Specchio N. Ferretti A, et al. Am J Med Genet A. 2019 Aug;179(8):1631-1636. doi: 10.1002/ajmg.a.61206. Epub 2019 May 28. Am J Med Genet A. 2019. PMID: 31136090 Review.
We report a 5-year-old girl with a de novo inactivating POGZ mutation with a complex neurological phenotype characterized by hypotonia, severe developmental delay, and paroxysmal epileptic and nonepileptic events. ...Besides dysmorphic features and other como …
We report a 5-year-old girl with a de novo inactivating POGZ mutation with a complex neurological phenotype characterized by hypotonia, seve …
Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?
Evers C, Mitter D, Strobl-Wildemann G, Haug U, Hackmann K, Maas B, Janssen JW, Jauch A, Hinderhofer K, Moog U. Evers C, et al. Am J Med Genet A. 2015 Mar;167A(3):553-62. doi: 10.1002/ajmg.a.36897. Am J Med Genet A. 2015. PMID: 25691408 Review.
Recently, a recurrent 4.5 Mb microduplication of Xp11.22-p11.23 was found in females with developmental delay/intellectual disability and other neurodevelopmental disorders (speech development disorder, epilepsy or EEG anoma …
Recently, a recurrent 4.5 Mb microduplication of Xp11.22-p11.23 was found in females with developmental delay/intellectual …
Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.
Wang P, Carrion P, Qiao Y, Tyson C, Hrynchak M, Calli K, Lopez-Rangel E, Andrieux J, Delobel B, Duban-Bedu B, Thuresson AC, Annerén G, Liu X, Rajcan-Separovic E, Suzanne Lewis ME. Wang P, et al. Eur J Med Genet. 2013 Aug;56(8):420-5. doi: 10.1016/j.ejmg.2013.05.006. Epub 2013 May 29. Eur J Med Genet. 2013. PMID: 23727450 Review.
We report a 7-year-old female with ADOS-G and ADI-R confirmed autistic disorder harbouring a de novo 4 Mb duplication (18q12.1). Our subject displays severely deficient expressive language, stereotypic and repetitive behaviours, mild intellectual di …
We report a 7-year-old female with ADOS-G and ADI-R confirmed autistic disorder harbouring a de novo 4 Mb duplication (18q12.1 …
[Williams syndrome].
Alleva E, Cirulli F, Calamandrei G, Rondinini C, Capirci O, Aloe L, Volterra V. Alleva E, et al. Ann Ist Super Sanita. 1999;35(2):211-9. Ann Ist Super Sanita. 1999. PMID: 10645654 Review. Italian.
Williams syndrome (WS) is a rare (2-5/100,000) genetic human disorder characterised by a typical facies and mental retardation with a deficit in the visuospatial cognitive function and a relative preservation of linguistic abilities in general, and spoken languag …
Williams syndrome (WS) is a rare (2-5/100,000) genetic human disorder characterised by a typical facies and mental retardation …