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1.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet;
108(6): 1069-1082, 2021 06 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34022130
2.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord;
39(1): 141-151, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37964426
3.
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
J Med Genet;
59(4): 393-398, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33879512
4.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet;
100(3): 523-536, 2017 Mar 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28190456
5.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med;
22(7): 1215-1226, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32376980
6.
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
Hum Mol Genet;
26(3): 519-526, 2017 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28053047
7.
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Hum Mutat;
38(4): 426-438, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28058752
8.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Am J Hum Genet;
92(4): 605-13, 2013 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-23541340
9.
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Nat Genet;
39(9): 1134-9, 2007 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-17676042
10.
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.
Ann Rheum Dis;
74(6): 1249-56, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24442880
11.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet;
51(10): 659-68, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25125236
12.
'You don't get told anything, they don't do anything and nothing changes'. Medicine as a resource and constraint in progressive ataxia.
Health Expect;
18(2): 177-87, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23094806
13.
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
Am J Hum Genet;
89(1): 148-53, 2011 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21737058
14.
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Brain;
136(Pt 12): 3634-44, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24176978
15.
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
Eur J Med Genet;
67: 104907, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38141875
16.
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Hum Mutat;
33(6): 981-8, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22473935
17.
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients.
Muscle Nerve;
46(5): 698-704, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22996176
18.
Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.
Am J Med Genet A;
155A(12): 2910-5, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22002932
19.
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
J Clin Invest;
130(3): 1431-1445, 2020 03 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31794431
20.
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
Hum Mutat;
30(3): 334-41, 2009 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19006240