Detalhe da pesquisa
1.
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
Am J Med Genet A
; 182(10): 2377-2383, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32744787
2.
Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report.
Int J Mol Sci
; 20(3)2019 Jan 27.
Artigo
Inglês
| MEDLINE | ID: mdl-30691194
3.
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.
Int J Mol Sci
; 19(10)2018 Oct 16.
Artigo
Inglês
| MEDLINE | ID: mdl-30332768
4.
Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.
Int J Mol Sci
; 18(11)2017 Oct 29.
Artigo
Inglês
| MEDLINE | ID: mdl-29109381
5.
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.
Int J Mol Sci
; 18(9)2017 Sep 17.
Artigo
Inglês
| MEDLINE | ID: mdl-28926972
6.
A novel MED12 mutation: Evidence for a fourth phenotype.
Am J Med Genet A
; 170(9): 2377-82, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27312080
7.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
J Inherit Metab Dis
; 39(2): 243-52, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26475597
8.
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.
Hum Mutat
; 36(11): 1043-7, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26252249
9.
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Hum Genet
; 134(6): 613-26, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25805166
10.
Recurrent â¼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
Am J Med Genet A
; 164A(12): 3137-41, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25257502
11.
Deletion 2p15-16.1 syndrome: case report and review.
Am J Med Genet A
; 155A(10): 2473-8, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21910216
12.
Porencephaly in an Italian neonate with foetal alcohol spectrum disorder: A case report.
Medicine (Baltimore)
; 99(31): e21384, 2020 Jul 31.
Artigo
Inglês
| MEDLINE | ID: mdl-32756128
13.
Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.
Medicine (Baltimore)
; 99(27): e20995, 2020 Jul 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32629717
14.
2q31.2q32.3 deletion syndrome: report of an adult patient.
Am J Med Genet A
; 149A(4): 706-12, 2009 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-19248183
15.
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.
Eur J Hum Genet
; 27(8): 1260-1266, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30936464
16.
Xq12-q13.3 duplication: evidence of a recurrent syndrome.
Ann Neurol
; 72(5): 821-2; author reply 822-3, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23280798
17.
Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.
Front Endocrinol (Lausanne)
; 9: 163, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29692759
18.
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.
Bone
; 114: 125-136, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29929043
19.
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
J Clin Endocrinol Metab
; 102(11): 3961-3969, 2017 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28938448
20.
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.
Am J Med Genet A
; 155A(4): 928-30, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21416586