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Items: 16

1.

Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD.

Goutaki M, Papon JF, Boon M, Casaulta C, Eber E, Escudier E, Halbeisen FS, Harris A, Hogg C, Honore I, Jung A, Karadag B, Koerner-Rettberg C, Legendre M, Maitre B, Nielsen KG, Rubbo B, Rumman N, Schofield L, Shoemark A, Thouvenin G, Willkins H, Lucas JS, Kuehni CE.

ERJ Open Res. 2020 Feb 10;6(1). pii: 00237-2019. doi: 10.1183/23120541.00237-2019. eCollection 2020 Jan.

2.

Uniportal video-assisted thoracoscopic lobectomy in a 9-week-old patient.

Shaqqura B, Rumman N, Gonzalez Rivas D, Abu Akar F.

Interact Cardiovasc Thorac Surg. 2020 Feb 1;30(2):327. doi: 10.1093/icvts/ivz263. No abstract available.

PMID:
31976540
3.

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.

Fassad MR, Patel MP, Shoemark A, Cullup T, Hayward J, Dixon M, Rogers AV, Ollosson S, Jackson C, Goggin P, Hirst RA, Rutman A, Thompson J, Jenkins L, Aurora P, Moya E, Chetcuti P, O'Callaghan C, Morris-Rosendahl DJ, Watson CM, Wilson R, Carr S, Walker W, Pitno A, Lopes S, Morsy H, Shoman W, Pereira L, Constant C, Loebinger MR, Chung EMK, Kenia P, Rumman N, Fasseeh N, Lucas JS, Hogg C, Mitchison HM.

J Med Genet. 2019 Dec 25. pii: jmedgenet-2019-106501. doi: 10.1136/jmedgenet-2019-106501. [Epub ahead of print]

PMID:
31879361
4.

Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School.

Farley H, Rubbo B, Bukowy-Bieryllo Z, Fassad M, Goutaki M, Harman K, Hogg C, Kuehni CE, Lopes S, Nielsen KG, Norris DP, Reula A, Rumman N, Shoemark A, Wilkins H, Wisse A, Lucas JS, Marthin JK.

BMC Proc. 2018 Dec 18;12(Suppl 16):64. doi: 10.1186/s12919-018-0161-6. eCollection 2018.

5.

T+ NK+ IL-2 Receptor ╬│ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.

Stepensky P, Keller B, Shamriz O, von Spee-Mayer C, Friedmann D, Shadur B, Unger S, Fuchs S, NaserEddin A, Rumman N, Amro S, Molho Pessach V, Abuzaitoun O, Somech R, Elpeleg O, Ehl S, Warnatz K.

J Clin Immunol. 2018 May;38(4):527-536. doi: 10.1007/s10875-018-0514-y. Epub 2018 Jun 9.

PMID:
29948574
6.

Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1.

Halbeisen F, Hogg C, Alanin MC, Bukowy-Bieryllo Z, Dasi F, Duncan J, Friend A, Goutaki M, Jackson C, Keenan V, Harris A, Hirst RA, Latzin P, Marsh G, Nielsen K, Norris D, Pellicer D, Reula A, Rubbo B, Rumman N, Shoemark A, Walker WT, Kuehni CE, Lucas JS.

BMC Proc. 2018 Mar 5;12(Suppl 2):1. doi: 10.1186/s12919-018-0098-9. eCollection 2018.

7.

Primary ciliary dyskinesia: mechanisms and management.

Damseh N, Quercia N, Rumman N, Dell SD, Kim RH.

Appl Clin Genet. 2017 Sep 19;10:67-74. doi: 10.2147/TACG.S127129. eCollection 2017. Review.

8.

Summer schools of adult and paediatric respiratory medicine: course report.

Horvath I, Kovacs G, Munteanu O, Kmyta V, Midulla F, Kadam S, Rumman N.

Breathe (Sheff). 2016 Dec;12(4):305-308. doi: 10.1183/20734735.017016.

9.

Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries.

Rumman N, Jackson C, Collins S, Goggin P, Coles J, Lucas JS.

Eur Respir Rev. 2017 Jan 17;26(143). pii: 160058. doi: 10.1183/16000617.0058-2016. Print 2017 Jan. Review.

10.

Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype.

Stepensky P, Keller B, Shamriz O, NaserEddin A, Rumman N, Weintraub M, Warnatz K, Elpeleg O, Barak Y.

Clin Immunol. 2016 Feb;163:91-5. doi: 10.1016/j.clim.2016.01.001. Epub 2016 Jan 6.

PMID:
26769277
11.

Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.

Siryani I, Jama M, Rumman N, Marzouqa H, Kannan M, Lyon E, Hindiyeh M.

PLoS One. 2015 Jul 24;10(7):e0133890. doi: 10.1371/journal.pone.0133890. eCollection 2015.

12.

Mesenteric panniculitis in a child misdiagnosed as appendicular mass: a case report and review of literature.

Rumman N, Rumman G, Sharabati B, Zagha R, Disi N.

Springerplus. 2014 Feb 6;3:73. doi: 10.1186/2193-1801-3-73. eCollection 2014.

13.

Rectal prolapse and cystic fibrosis.

El-Chammas KI, Rumman N, Goh VL, Quintero D, Goday PS.

J Pediatr Gastroenterol Nutr. 2015 Jan;60(1):110-2. doi: 10.1097/MPG.0000000000000546.

PMID:
25162364
14.

Anterior tracheal suspension for tracheobronchomalacia in infants and children.

Mitchell ME, Rumman N, Chun RH, Rao A, Martin T, Beste DJ, Berens RJ, Parakininkas DE, Ghanayem NS, Hubert MJ, Uhing M, Simpson P, Sato TT, Tweddell JS, Kerschner JE.

Ann Thorac Surg. 2014 Oct;98(4):1246-53. doi: 10.1016/j.athoracsur.2014.05.027. Epub 2014 Jul 31.

PMID:
25086944
15.

Calprotectin in cystic fibrosis.

Rumman N, Sultan M, El-Chammas K, Goh V, Salzman N, Quintero D, Werlin S.

BMC Pediatr. 2014 May 29;14:133. doi: 10.1186/1471-2431-14-133.

16.

Hemoptysis in a teenager with congenital heart disease.

Rumman N, Berger S, Rao A.

Pediatr Cardiol. 2011 Jan;32(1):105-7. doi: 10.1007/s00246-010-9824-4. Epub 2010 Oct 24. No abstract available.

PMID:
20972866

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