117 related articles for article (PubMed ID: 29783825)
1. [Clinical and molecular analysis of two Chinese siblings with Bloom syndrome].
Wu ML; Wang XM; Li J; Ding Y; Chen Y; Chang GY; Wang J; Shen YP
Zhonghua Er Ke Za Zhi; 2018 May; 56(5):373-376. PubMed ID: 29783825
[No Abstract] [Full Text] [Related]
2. [Clinical and molecular analysis of two Chinese siblings with Cockayne syndrome].
Zhou Z; Liu L; Wu M; Liu H; Cai Y; Sheng H; Li X; Cheng J; Li D; Huang Y
Zhonghua Er Ke Za Zhi; 2016 Jan; 54(1):56-60. PubMed ID: 26791926
[TBL] [Abstract][Full Text] [Related]
3. Bloom syndrome does not always present with sun-sensitive facial erythema.
Bouman A; van Koningsbruggen S; Karakullukcu MB; Schreuder WH; Lakeman P
Eur J Med Genet; 2018 Feb; 61(2):94-97. PubMed ID: 29056561
[TBL] [Abstract][Full Text] [Related]
4. [3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].
Zhu H; Bao X; Zhang Y
Zhonghua Er Ke Za Zhi; 2015 Aug; 53(8):626-30. PubMed ID: 26717663
[TBL] [Abstract][Full Text] [Related]
5. [Analysis of clinical features and genetic variants in an infant with Bloom syndrome].
Shan Y; Yang Z; Yang X; Lei K; Fu P; Yi M; Ma L; Ran N
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul; 37(7):764-766. PubMed ID: 32619260
[TBL] [Abstract][Full Text] [Related]
6. An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria.
Knerr I; Zschocke J; Schellmoser S; Topf HG; Weigel C; Dötsch J; Rascher W
BMC Pediatr; 2005 Apr; 5(1):5. PubMed ID: 15811181
[TBL] [Abstract][Full Text] [Related]
7. Bloom syndrome in two siblings.
Sultan SJ; Sultan ST
Pediatr Dermatol; 2010; 27(2):174-7. PubMed ID: 20537070
[TBL] [Abstract][Full Text] [Related]
8. Growth deficiency and malnutrition in Bloom syndrome.
Keller C; Keller KR; Shew SB; Plon SE
J Pediatr; 1999 Apr; 134(4):472-9. PubMed ID: 10190923
[TBL] [Abstract][Full Text] [Related]
9. Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.
Sybouts EH; Brown AD; Falcon-Cantrill MG; Thomas MH; DeNapoli T; Voeller J; Chen Y; Tomlinson GE; Bishop AJR
Cold Spring Harb Mol Case Stud; 2021 Apr; 7(2):. PubMed ID: 33832920
[TBL] [Abstract][Full Text] [Related]
10. [Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review].
Zhang R; He XH; Lin HY; Yang XH
Zhonghua Er Ke Za Zhi; 2018 Feb; 56(2):138-141. PubMed ID: 29429203
[No Abstract] [Full Text] [Related]
11. [Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review].
He TY; Zhang N; Xia Y; Luo Y; Li CR; Yang J
Zhonghua Er Ke Za Zhi; 2017 Dec; 55(12):942-946. PubMed ID: 29262476
[No Abstract] [Full Text] [Related]
12. Lens opacities in Bloom syndrome: case report and review of the literature.
Cefle K; Ozturk S; Gozum N; Duman N; Mantar F; Guler K; Palanduz S
Ophthalmic Genet; 2007 Sep; 28(3):175-8. PubMed ID: 17896317
[TBL] [Abstract][Full Text] [Related]
13. Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.
Kaneko H; Kondo N
Expert Rev Mol Diagn; 2004 May; 4(3):393-401. PubMed ID: 15137905
[TBL] [Abstract][Full Text] [Related]
14. [Analysis of clinical feature and genetic mutation in a Chinese family affected with Seckel syndrome].
Hong L; Liu J; Wu B
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jun; 36(6):595-597. PubMed ID: 31055814
[TBL] [Abstract][Full Text] [Related]
15. A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report.
Wayhelova M; Vallova V; Broz P; Mikulasova A; Machackova D; Filkova HD; Smetana J; Takacsova A; Gaillyova R; Kuglik P
Mol Med Rep; 2023 May; 27(5):. PubMed ID: 37052241
[TBL] [Abstract][Full Text] [Related]
16. Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin.
Trizuljak J; Petruchová T; Blaháková I; Vrzalová Z; Hořínová V; Doubková M; Michalka J; Mayer J; Pospíšilová Š; Doubek M
Mol Syndromol; 2020 Jun; 11(2):73-82. PubMed ID: 32655338
[TBL] [Abstract][Full Text] [Related]
17. Two Japanese siblings with Bloom syndrome gene mutation and B-cell lymphoma.
Kaneko H; Inoue R; Fukao T; Kasahara K; Tashita H; Teramoto T; Kondo N
Leuk Lymphoma; 1997 Nov; 27(5-6):539-42. PubMed ID: 9477137
[TBL] [Abstract][Full Text] [Related]
18. [A family with two children diagnosed with aspartylglucosaminuria-case report and literature review].
Liu Y; Zou L; Meng Y; Zhang Y; Shi X; Ju J; Yang G; Hu L; Chen X
Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):455-9. PubMed ID: 25190167
[TBL] [Abstract][Full Text] [Related]
19. Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.
Asahina M; Endoh Y; Matsubayashi T; Fukuda T; Ogata T
Brain Dev; 2016 Mar; 38(3):337-40. PubMed ID: 26421802
[TBL] [Abstract][Full Text] [Related]
20. Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.
Pekpak Sahinoglu E; Oren AC; Sahinoglu B; Gumus U; Akbayram S
J Pediatr Hematol Oncol; 2024 Mar; 46(2):e199-e201. PubMed ID: 38113221
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]