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Items: 10

1.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, B├╝ttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE.

Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8.

2.

A small blackberry-like nodule on the nipple in a pregnant affected by Tuberous Sclerosis Complex.

Schepis C, Siragusa M, Bottitta M, Lentini M.

G Ital Dermatol Venereol. 2019 Feb 4. doi: 10.23736/S0392-0488.19.06174-1. [Epub ahead of print] No abstract available.

PMID:
30717568
3.

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Borgione E, Castello F, Lo Giudice M, Santa Paola S, Salvatore S, Berti G, Malandrini A, Bottitta M, Musumeci SA, Scuderi C.

Neurol Sci. 2016 May;37(5):805-7. doi: 10.1007/s10072-015-2439-z. Epub 2015 Dec 23. No abstract available.

PMID:
26700800
4.

Seizures and EEG pattern in the 22q13.3 deletion syndrome: clinical report of six Italian cases.

Figura MG, Coppola A, Bottitta M, Calabrese G, Grillo L, Luciano D, Del Gaudio L, Torniero C, Striano S, Elia M.

Seizure. 2014 Oct;23(9):774-9. doi: 10.1016/j.seizure.2014.06.008. Epub 2014 Jul 1.

5.

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.

Elia M, Amato C, Bottitta M, Grillo L, Calabrese G, Esposito M, Carotenuto M.

Brain Dev. 2012 Nov;34(10):873-6. doi: 10.1016/j.braindev.2012.03.005. Epub 2012 Apr 1.

PMID:
22469695
6.

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients.

Grillo L, Reitano S, Belfiore G, Spalletta A, Amata S, Bottitta M, Barone C, Falco M, Fichera M, Romano C.

Eur J Med Genet. 2010 Mar-Apr;53(2):113-6. doi: 10.1016/j.ejmg.2010.01.001. Epub 2010 Jan 21.

PMID:
20096387
7.

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M.

Neurology. 2008 Sep 23;71(13):997-9. doi: 10.1212/01.wnl.0000326592.37105.88.

PMID:
18809835
8.

Clinical correlates of brain morphometric features of subjects with low-functioning autistic disorder.

Elia M, Ferri R, Musumeci SA, Panerai S, Bottitta M, Scuderi C.

J Child Neurol. 2000 Aug;15(8):504-8.

PMID:
10961787
9.

Sleep in subjects with autistic disorder: a neurophysiological and psychological study.

Elia M, Ferri R, Musumeci SA, Del Gracco S, Bottitta M, Scuderi C, Miano G, Panerai S, Bertrand T, Grubar JC.

Brain Dev. 2000 Mar;22(2):88-92.

PMID:
10722958
10.

Familial cortical tremor, epilepsy, and mental retardation: a distinct clinical entity?

Elia M, Musumeci SA, Ferri R, Scuderi C, Del Gracco S, Bottitta M, Michelucci R, Tassinari CA.

Arch Neurol. 1998 Dec;55(12):1569-73.

PMID:
9865802

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