Detalles de la búsqueda
1.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Am J Hum Genet;
109(5): 928-943, 2022 05 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35397207
2.
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.
Hum Mol Genet;
31(14): 2295-2306, 2022 07 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-35137054
3.
Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants.
Int J Mol Sci;
25(2)2024 01 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-38279270
4.
Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.
Int J Mol Sci;
23(15)2022 Jul 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-35897673
5.
Phylogenetic Cluster Analysis Identifies Virological and Behavioral Drivers of Human Immunodeficiency Virus Transmission in Men Who Have Sex With Men.
Clin Infect Dis;
72(12): 2175-2183, 2021 06 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-32300807
6.
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Genet Med;
23(7): 1219-1224, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33712733
7.
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Hum Mutat;
41(12): 2179-2194, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33131181
8.
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.
Br J Cancer;
123(4): 619-623, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32451468
9.
Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia.
Clin Endocrinol (Oxf);
93(3): 346-354, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32533869
10.
Genotype-Informed Versus Empiric Management Of VirEmia (GIVE MOVE): study protocol of an open-label randomised clinical trial in children and adolescents living with HIV in Lesotho and Tanzania.
BMC Infect Dis;
20(1): 773, 2020 Oct 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-33076866
11.
PEBRA trial - effect of a peer-educator coordinated preference-based ART service delivery model on viral suppression among adolescents and young adults living with HIV: protocol of a cluster-randomized clinical trial in rural Lesotho.
BMC Public Health;
20(1): 425, 2020 Mar 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-32228531
12.
A Systematic Phylogenetic Approach to Study the Interaction of HIV-1 With Coinfections, Noncommunicable Diseases, and Opportunistic Diseases.
J Infect Dis;
220(2): 244-253, 2019 06 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-30835292
13.
Viral Diversity Based on Next-Generation Sequencing of HIV-1 Provides Precise Estimates of Infection Recency and Time Since Infection.
J Infect Dis;
220(2): 254-265, 2019 06 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-30835266
14.
Importance of routine viral load monitoring: higher levels of resistance at ART failure in Uganda and Lesotho compared with Switzerland.
J Antimicrob Chemother;
74(2): 468-472, 2019 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30476115
15.
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
J Med Genet;
55(6): 422-429, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29459493
16.
Parent-offspring regression to estimate the heritability of an HIV-1 trait in a realistic setup.
Retrovirology;
14(1): 33, 2017 05 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-28535768
17.
Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.
Pediatr Blood Cancer;
64(3)2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27650505
18.
Correction to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Genet Med;
23(12): 2468, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34302124
19.
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Hum Mutat;
34(5): 714-24, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23418020
20.
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Orphanet J Rare Dis;
18(1): 360, 2023 Nov 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-37974153