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1.
Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.
Mol Psychiatry;
26(5): 1589-1605, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32060413
2.
Zebrafish sp7 mutants show tooth cycling independent of attachment, eruption and poor differentiation of teeth.
Dev Biol;
435(2): 176-184, 2018 03 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29409769
3.
Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum.
Clin Genet;
93(4): 800-811, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29112243
4.
Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.
Clin Genet;
91(5): 683-689, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-27350171
5.
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.
Mol Psychiatry;
20(11): 1350-65, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25385366
6.
A review of craniofacial disorders caused by spliceosomal defects.
Clin Genet;
88(5): 405-15, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25865758
7.
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
Nat Genet;
14(2): 195-8, 1996 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-8841194
8.
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.
Nat Genet;
24(2): 163-6, 2000 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-10655062
9.
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
Nat Genet;
20(1): 37-42, 1998 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-9731527
10.
Altered mTORC1 signaling in multipotent stem cells from nearly 25% of patients with nonsyndromic autism spectrum disorders.
Mol Psychiatry;
20(5): 551-2, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25582616
11.
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
J Med Genet;
45(8): 539-43, 2008 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-18550699
12.
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.
J Med Genet;
45(7): 447-50, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-18456720
13.
MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.
J Dent Res;
97(1): 33-40, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-29053389
14.
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.
J Med Genet;
43(5): 457-60, 2006 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-15980113
15.
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.
Cytogenet Genome Res;
115(3-4): 254-61, 2006.
Artículo
en Inglés
| MEDLINE | ID: mdl-17124408
16.
Effect of polymorphisms of the MTHFR and APOE genes on susceptibility to diabetes and severity of diabetic retinopathy in Brazilian patients.
Braz J Med Biol Res;
39(7): 883-8, 2006 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-16862278
17.
A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma.
Cancer Res;
61(20): 7375-8, 2001 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-11606364
18.
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
Hum Mutat;
16(4): 315-22, 2000 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-11013442
19.
Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin-glycoprotein complex.
Eur J Hum Genet;
7(2): 251-4, 1999.
Artículo
en Inglés
| MEDLINE | ID: mdl-10196712
20.
High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours.
Eur J Hum Genet;
9(11): 811-4, 2001 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-11781696