142 related articles for article (PubMed ID: 22239599)
1. 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]
2. 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]
3. 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]
4. 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]
5. A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.
Aukema SM; Ten Brinke GA; Timens W; Vos YJ; Accord RE; Kraft KE; Santing MJ; Morssink LP; Streefland E; van Diemen CC; Vrijlandt EJ; Hulzebos CV; Kerstjens-Frederikse WS
Am J Med Genet A; 2020 Sep; 182(9):2152-2160. PubMed ID: 32618121
[TBL] [Abstract][Full Text] [Related]
6. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Fotiou E; Martin-Almedina S; Simpson MA; Lin S; Gordon K; Brice G; Atton G; Jeffery I; Rees DC; Mignot C; Vogt J; Homfray T; Snyder MP; Rockson SG; Jeffery S; Mortimer PS; Mansour S; Ostergaard P
Nat Commun; 2015 Sep; 6():8085. PubMed ID: 26333996
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings.
Mastromoro G; Guadagnolo D; Giancotti A; Di Gregorio MG; Marchionni E; Vena F; Lepri FR; Bargiacchi L; Ventriglia F; Di Gioia C; Novelli A; Pizzuti A
Eur J Med Genet; 2021 Jan; 64(1):104106. PubMed ID: 33227434
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
Connell F; Kalidas K; Ostergaard P; Brice G; Homfray T; Roberts L; Bunyan DJ; Mitton S; Mansour S; Mortimer P; Jeffery S;
Hum Genet; 2010 Feb; 127(2):231-41. PubMed ID: 19911200
[TBL] [Abstract][Full Text] [Related]
15. Genetics and lymphoedema: a future yet to be fully discovered.
Cooper G
Br J Community Nurs; 2017 Jan; 22(1):646-648. PubMed ID: 28034335
[No Abstract] [Full Text] [Related]
16. 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]
17. Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression.
de Bruyn G; Casaer A; Devolder K; Van Acker G; Logghe H; Devriendt K; Cornette L
Eur J Pediatr; 2012 Mar; 171(3):447-50. PubMed ID: 21918810
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Piezo channels.
Parpaite T; Coste B
Curr Biol; 2017 Apr; 27(7):R250-R252. PubMed ID: 28376327
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
