Detalles de la búsqueda
1.
Clinical Significance of the Cystic Phenotype in Alport Syndrome.
Am J Kidney Dis
; 2024 Mar 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38514012
2.
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Clin Genet
; 104(2): 230-237, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37038048
3.
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.
Am J Med Genet B Neuropsychiatr Genet
; 180(1): 25-34, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30471081
4.
COL6A5 variants in familial neuropathic chronic itch.
Brain
; 140(3): 555-567, 2017 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28073787
5.
Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
Am J Med Genet A
; 173(2): 524-530, 2017 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-28102596
6.
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.
Am J Med Genet A
; 173(1): 200-206, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27615407
7.
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.
Am J Med Genet A
; 173(4): 914-929, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28266107
8.
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
Cytogenet Genome Res
; 150(1): 40-45, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27852077
9.
Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.
Am J Med Genet A
; 170(8): 2031-8, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27149304
10.
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Am J Med Genet C Semin Med Genet
; 169C(1): 6-22, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25821090
11.
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
Am J Med Genet C Semin Med Genet
; 169C(1): 43-53, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25655071
12.
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
BMC Med Genet
; 15: 91, 2014 Aug 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-25163805
13.
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
BMC Med Genet
; 15: 122, 2014 Nov 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-25373504
14.
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigrees.
Am J Med Genet A
; 164A(12): 3010-20, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25338840
15.
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.
Prenat Diagn
; 39(8): 652-655, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31158925
16.
Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotype.
Clin Kidney J
; 17(2): sfae026, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38404363
17.
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type.
Am J Med Genet A
; 161A(5): 1143-7, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23533212
18.
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients.
Am J Med Genet A
; 158A(9): 2176-82, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22847925
19.
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.
J Nephrol
; 35(2): 645-652, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-34357571
20.
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.
Kidney Int Rep
; 5(12): 2341-2350, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-33305128