Detalles de la búsqueda
1.
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
Nat Genet
; 21(3): 297-301, 1999 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-10080183
2.
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.
Am J Med Genet A
; 149A(3): 417-26, 2009 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19215041
3.
Genetic homogeneity of lysinuric protein intolerance.
Eur J Hum Genet
; 6(6): 612-5, 1998.
Artículo
en Inglés
| MEDLINE | ID: mdl-9887380
4.
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
Eur J Hum Genet
; 7(8): 937-40, 1999 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-10602371
5.
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.
Am J Med Genet
; 57(3): 476-8, 1995 Jul 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-7677154
6.
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity.
Am J Med Genet
; 64(1): 209-15, 1996 Jul 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-8826478
7.
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.
Am J Med Genet
; 85(3): 311-6, 1999 Jul 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-10398249
8.
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.
Eur J Pediatr
; 157 Suppl 2: S67-70, 1998 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-9587029
9.
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
Am J Hum Genet
; 56(6): 1324-33, 1995 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-7762555
10.
Combined immunodeficiency phenotype associated with inappropriate spontaneous and activation-induced apoptosis.
Clin Exp Immunol
; 108(3): 484-9, 1997 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-9182896
11.
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.
J Inherit Metab Dis
; 19(3): 351-6, 1996.
Artículo
en Inglés
| MEDLINE | ID: mdl-8803779
12.
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report.
Prenat Diagn
; 19(8): 771-3, 1999 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-10451527
13.
The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.
J Med Genet
; 35(12): 1009-13, 1998 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-9863598
14.
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.
J Med Genet
; 35(12): 1047-9, 1998 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-9863608
15.
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.
Genomics
; 49(2): 230-6, 1998 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-9598310
16.
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects.
Am J Physiol Cell Physiol
; 279(6): C1829-37, 2000 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-11078698
17.
Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.
Am J Hum Genet
; 66(3): 841-7, 2000 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-10712200
18.
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.
Genomics
; 62(2): 297-303, 1999 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-10610726
19.
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
Am J Hum Genet
; 66(1): 92-9, 2000 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-10631139
20.
Cystathionine beta-synthase mutations in homocystinuria.
Hum Mutat
; 13(5): 362-75, 1999.
Artículo
en Inglés
| MEDLINE | ID: mdl-10338090