178 related articles for article (PubMed ID: 26686525)
1. A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.
Jackson CC; Best L; Lorenzo L; Casanova JL; Wacker J; Bertz S; Agaimy A; Harrer T
J Clin Immunol; 2016 Jan; 36(1):19-27. PubMed ID: 26686525
[TBL] [Abstract][Full Text] [Related]
2. A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
Frosk P; Chodirker B; Simard L; El-Matary W; Hanlon-Dearman A; Schwartzentruber J; Majewski J; ; Rockman-Greenberg C
BMC Med Genet; 2015 Apr; 16():28. PubMed ID: 25925991
[TBL] [Abstract][Full Text] [Related]
3. Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.
Crawford J; Bower NI; Hogan BM; Taft RJ; Gabbett MT; McGaughran J; Simons C
Am J Med Genet A; 2016 Oct; 170(10):2694-7. PubMed ID: 27345729
[TBL] [Abstract][Full Text] [Related]
4. Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain.
Roukens MG; Peterson-Maduro J; Padberg Y; Jeltsch M; Leppänen VM; Bos FL; Alitalo K; Schulte-Merker S; Schulte D
Circ Res; 2015 May; 116(10):1660-9. PubMed ID: 25814692
[TBL] [Abstract][Full Text] [Related]
5. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Alders M; Al-Gazali L; Cordeiro I; Dallapiccola B; Garavelli L; Tuysuz B; Salehi F; Haagmans MA; Mook OR; Majoie CB; Mannens MM; Hennekam RC
Hum Genet; 2014 Sep; 133(9):1161-7. PubMed ID: 24913602
[TBL] [Abstract][Full Text] [Related]
6. Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.
Fattorusso A; Pieri ES; Dell'Isola GB; Prontera P; Mencaroni E; Stangoni G; Esposito S
Medicine (Baltimore); 2020 Jul; 99(27):e20995. PubMed ID: 32629717
[TBL] [Abstract][Full Text] [Related]
7. Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.
Shinwari K; Guojun L; Deryabina SS; Bolkov MA; Tuzankina IA; Chereshnev VA
ScientificWorldJournal; 2021; 2021():6642626. PubMed ID: 34234628
[TBL] [Abstract][Full Text] [Related]
8. CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
Shah S; Conlin LK; Gomez L; Aagenaes Ø; Eiklid K; Knisely AS; Mennuti MT; Matthews RP; Spinner NB; Bull LN
PLoS One; 2013; 8(9):e75770. PubMed ID: 24086631
[TBL] [Abstract][Full Text] [Related]
9. An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3.
Scheuerle AE; Sweed NT; Timmons CF; Smith ED; Alcaraz WA; Shinde DN
Am J Med Genet A; 2018 Dec; 176(12):2858-2861. PubMed ID: 30450763
[TBL] [Abstract][Full Text] [Related]
10. Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
Brouillard P; Dupont L; Helaers R; Coulie R; Tiller GE; Peeden J; Colige A; Vikkula M
Hum Mol Genet; 2017 Nov; 26(21):4095-4104. PubMed ID: 28985353
[TBL] [Abstract][Full Text] [Related]
11. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Boone PM; Paterson S; Mohajeri K; Zhu W; Genetti CA; Tai DJC; Nori N; Agrawal PB; Bacino CA; Bi W; Talkowski ME; Hogan BM; Rodan LH
Am J Med Genet A; 2020 Jan; 182(1):189-194. PubMed ID: 31633297
[TBL] [Abstract][Full Text] [Related]
12. CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis.
Connell FC; Kalidas K; Ostergaard P; Brice G; Murday V; Mortimer PS; Jeffrey I; Jeffery S; Mansour S
Clin Genet; 2012 Feb; 81(2):191-7. PubMed ID: 22239599
[No Abstract] [Full Text] [Related]
13. Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency.
Tessarin G; Baronio M; Gazzurelli L; Rossi S; Chiarini M; Moratto D; Badolato R; Lougaris V
J Investig Allergol Clin Immunol; 2023 Dec; 33(6):488-490. PubMed ID: 36748365
[No Abstract] [Full Text] [Related]
14. [Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1].
Ren Y; Liu Y; Lyu Y; Gao M; Wang D; Wan Y; Ma J; Shen N; Gai Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jun; 37(6):669-672. PubMed ID: 32472549
[TBL] [Abstract][Full Text] [Related]
15. Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.
Alders M; Mendola A; Adès L; Al Gazali L; Bellini C; Dallapiccola B; Edery P; Frank U; Hornshuh F; Huisman SA; Jagadeesh S; Kayserili H; Keng WT; Lev D; Prada CE; Sampson JR; Schmidtke J; Shashi V; van Bever Y; Van der Aa N; Verhagen JM; Verheij JB; Vikkula M; Hennekam RC
Mol Syndromol; 2013 Mar; 4(3):107-13. PubMed ID: 23653581
[TBL] [Abstract][Full Text] [Related]
16. Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome.
Kaut S; Bucciol G; Moens L; Meyts I
J Clin Immunol; 2021 Oct; 41(7):1674-1676. PubMed ID: 34176065
[No Abstract] [Full Text] [Related]
17. Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia.
Al Sinani S; Rawahi YA; Abdoon H
World J Gastroenterol; 2012 Nov; 18(43):6333-7. PubMed ID: 23180957
[TBL] [Abstract][Full Text] [Related]
18. Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
Ivanovski I; Akbaroghli S; Pollazzon M; Gelmini C; Caraffi SG; Mansouri M; Chavoshzadeh Z; Rosato S; Polizzi V; Gargano G; Alders M; Garavelli L; Hennekam RC
Am J Med Genet A; 2018 May; 176(5):1166-1174. PubMed ID: 29681106
[TBL] [Abstract][Full Text] [Related]
19. [A complicated case study: Hennekam syndrome].
Deng XL; Yin F; Zhang GY; Duan YD
Zhongguo Dang Dai Er Ke Za Zhi; 2015 Jan; 17(1):77-80. PubMed ID: 25616299
[TBL] [Abstract][Full Text] [Related]
20. Hennekam syndrome: a rare cause of primary lymphedema.
Elmansour I; Chiheb S; Benchikhi H
Dermatol Online J; 2014 Aug; 20(8):. PubMed ID: 25148287
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
