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1.
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Am J Med Genet A
; 185(4): 1204-1210, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33442900
2.
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Int J Mol Sci
; 22(16)2021 Aug 10.
Article
in English
| MEDLINE | ID: mdl-34445317
3.
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.
Article
in English
| MEDLINE | ID: mdl-32744787
4.
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.
Article
in English
| MEDLINE | ID: mdl-30332768
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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-27312080
7.
NFIA haploinsufficiency: case series and literature review.
Front Pediatr
; 11: 1292654, 2023.
Article
in English
| MEDLINE | ID: mdl-37915986
8.
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
Am J Med Genet A
; 155A(11): 2746-9, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-21990121
9.
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.
Genes (Basel)
; 12(9)2021 09 12.
Article
in English
| MEDLINE | ID: mdl-34573388
10.
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.
Eur J Hum Genet
; 27(8): 1260-1266, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30936464
11.
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.
Article
in English
| MEDLINE | ID: mdl-29692759
12.
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.
Article
in English
| MEDLINE | ID: mdl-28938448
13.
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.
Am J Med Genet A
; 155A(4): 928-30, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21416586
14.
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother.
Am J Med Genet A
; 155A(1): 221-4, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21204236
15.
A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening.
Public Health Genomics
; 19(6): 336-341, 2016.
Article
in English
| MEDLINE | ID: mdl-27728908
16.
Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML).
Am J Med Genet A
; 149A(3): 543-5, 2009 Mar.
Article
in English
| MEDLINE | ID: mdl-19215040
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