194 related articles for article (PubMed ID: 36672886)
1. Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in
Zaman Q; Sadeeda ; Anas M; Rehman G; Khan Q; Iftikhar A; Ahmad M; Owais M; Ahmad I; Muthaffar OY; Abdulkareem AA; Bibi F; Jelani M; Naseer MI
Genes (Basel); 2023 Jan; 14(1):. PubMed ID: 36672886
[No Abstract] [Full Text] [Related]
2. Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of
Wang ZX; Liu YH; Dong Y; Li YL; Tang TY; Fan LL
Biomed Res Int; 2021; 2021():4535349. PubMed ID: 34608437
[TBL] [Abstract][Full Text] [Related]
3. Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.
Doubková M; Trizuljak J; Vrzalová Z; Hrazdirová A; Blaháková I; Radová L; Pospíšilová Š; Doubek M
BMC Pulm Med; 2019 Oct; 19(1):178. PubMed ID: 31619213
[TBL] [Abstract][Full Text] [Related]
4. Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
O'Brien KJ; Lozier J; Cullinane AR; Osorio B; Nghiem K; Speransky V; Zein WM; Mullikin JC; Neff AT; Simon KL; Malicdan MC; Gahl WA; Young LR; Gochuico BR
Mol Genet Metab; 2016 Nov; 119(3):284-287. PubMed ID: 27641950
[TBL] [Abstract][Full Text] [Related]
5. Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3.
Lecchi A; La Marca S; Femia EA; Lenz A; Boeckelmann D; Artoni A; Peyvandi F; Zieger B
Platelets; 2020 Oct; 31(7):960-963. PubMed ID: 31880485
[TBL] [Abstract][Full Text] [Related]
6. Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.
Bastida JM; Morais S; Palma-Barqueros V; Benito R; Bermejo N; Karkucak M; Trapero-Marugan M; Bohdan N; Pereira M; Marin-Quilez A; Oliveira J; Yucel Y; Santos R; Padilla J; Janusz K; Lau C; Martin-Izquierdo M; Couto E; Francisco Ruiz-Pividal J; Vicente V; Hernández-Rivas JM; González-Porras JR; Luisa Lozano M; Lima M; Rivera J
Ann Med; 2019 Mar; 51(2):141-148. PubMed ID: 30990103
[No Abstract] [Full Text] [Related]
7. Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.
Wang C; Shi P; Li Q; Chen C; Zhao X; Zhang R; Kong X
Eur J Med Genet; 2021 Jun; 64(6):104228. PubMed ID: 33878481
[TBL] [Abstract][Full Text] [Related]
8. A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.
Andres O; Wiegering V; König EM; Schneider AL; Semeniak D; Stritt S; Klopocki E; Schulze H
Pediatr Blood Cancer; 2017 May; 64(5):. PubMed ID: 27917594
[TBL] [Abstract][Full Text] [Related]
9. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.
Huizing M; Anikster Y; Fitzpatrick DL; Jeong AB; D'Souza M; Rausche M; Toro JR; Kaiser-Kupfer MI; White JG; Gahl WA
Am J Hum Genet; 2001 Nov; 69(5):1022-32. PubMed ID: 11590544
[TBL] [Abstract][Full Text] [Related]
10. Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the
Marek-Yagel D; Abudi-Sinreich S; Macarov M; Veber A; Shalva N; Philosoph AM; Pode-Shakked B; Malicdan MCV; Anikster Y
Front Genet; 2022; 13():936064. PubMed ID: 36046236
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.
Wu W; Lin K; Yang Y; Dong Z; Zhang T; Lei W; Yang W; Yang Z
Medicine (Baltimore); 2019 Aug; 98(33):e16899. PubMed ID: 31415434
[TBL] [Abstract][Full Text] [Related]
12. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.
Anderson PD; Huizing M; Claassen DA; White J; Gahl WA
Hum Genet; 2003 Jul; 113(1):10-7. PubMed ID: 12664304
[TBL] [Abstract][Full Text] [Related]
13. Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.
Wei A; Yuan Y; Qi Z; Liu T; Bai D; Zhang Y; Yu J; Yang L; Yang X; Li W
Pigment Cell Melanoma Res; 2019 May; 32(3):373-380. PubMed ID: 30387913
[TBL] [Abstract][Full Text] [Related]
14. Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power B; Ferreira CR; Chen D; Zein WM; O'Brien KJ; Introne WJ; Stephen J; Gahl WA; Huizing M; Malicdan MCV; Adams DR; Gochuico BR
Orphanet J Rare Dis; 2019 Feb; 14(1):52. PubMed ID: 30791930
[TBL] [Abstract][Full Text] [Related]
15. Novel mutation in two brothers with Hermansky Pudlak syndrome type 3.
Sandrock-Lang K; Bartsch I; Buechele N; Koehler U; Simon-Gabriel CP; Eckenweiler M; Zieger B
Blood Cells Mol Dis; 2017 Sep; 67():75-80. PubMed ID: 28284561
[TBL] [Abstract][Full Text] [Related]
16. Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.
Zhou B; Yang J; Bai Y; Li Y; Chen S; Chen X; Zhang N; Cao Z; Zhu Y; Xu Y
Ophthalmic Res; 2024; 67(1):62-75. PubMed ID: 38091959
[TBL] [Abstract][Full Text] [Related]
17. NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
Wei A; Yuan Y; Bai D; Ma J; Hao Z; Zhang Y; Yu J; Zhou Z; Yang L; Yang X; Li L; Li W
Pigment Cell Melanoma Res; 2016 Nov; 29(6):702-706. PubMed ID: 27593200
[TBL] [Abstract][Full Text] [Related]
18. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Suzuki T; Li W; Zhang Q; Karim A; Novak EK; Sviderskaya EV; Hill SP; Bennett DC; Levin AV; Nieuwenhuis HK; Fong CT; Castellan C; Miterski B; Swank RT; Spritz RA
Nat Genet; 2002 Mar; 30(3):321-4. PubMed ID: 11836498
[TBL] [Abstract][Full Text] [Related]
19. Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.
Pennamen P; Tingaud-Sequeira A; Michaud V; Morice-Picard F; Plaisant C; Vincent-Delorme C; Giuliano F; Azarnoush S; Capri Y; Marçon C; Lacombe D; Lasseaux E; Arveiler B
Pigment Cell Melanoma Res; 2021 Jan; 34(1):132-135. PubMed ID: 32687635
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]