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Items: 1 to 20 of 310

1.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjö A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gürtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH.

J Exp Med. 2020 Mar 2;217(3). pii: e20191306. doi: 10.1084/jem.20191306.

PMID:
31914175
2.

Safety-relevant environmental sound identification in cochlear implant candidates and users.

Hamel BL, Vasil K, Shafiro V, Moberly AC, Harris MS.

Laryngoscope. 2019 Sep 9. doi: 10.1002/lary.28285. [Epub ahead of print]

PMID:
31498464
3.

Ellis-van Creveld syndrome in a patient from Tanzania.

Dekker MCJ, Sadiq AM, Jusabani MA, Mdavire VJ, Baas F, Morton DH, Hamel BCJ.

Am J Med Genet A. 2019 Oct;179(10):2034-2038. doi: 10.1002/ajmg.a.61309. Epub 2019 Jul 26.

PMID:
31350806
4.

First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features.

Dekker MCJ, Tieleman AA, Igogo OJ, van Duyvenvoorde HA, Howlett WP, Hamel BC.

Neuromuscul Disord. 2019 Apr;29(4):317-320. doi: 10.1016/j.nmd.2019.01.006. Epub 2019 Jan 25.

PMID:
30926200
5.

Camurati-Engelmann disease: a case report from sub-Saharan Africa.

Mwasamwaja AO, Mkwizu EW, Shao ER, Kalambo CF, Lyaruu I, Hamel BC.

Oxf Med Case Reports. 2018 Jul 17;2018(7):omy036. doi: 10.1093/omcr/omy036. eCollection 2018 Jul.

6.

Outcome of tacrolimus and vedolizumab after corticosteroid and anti-TNF failure in paediatric severe colitis.

Hamel B, Wu M, Hamel EO, Bass DM, Park KT.

BMJ Open Gastroenterol. 2018 Feb 14;5(1):e000195. doi: 10.1136/bmjgast-2017-000195. eCollection 2018.

7.

Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.

Ali AM, Mbwasi RM, Kinabo G, Kamsteeg EJ, Hamel BC, Dekker MCJ.

Case Rep Genet. 2017;2017:9327169. doi: 10.1155/2017/9327169. Epub 2017 May 11.

8.

Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania.

Shao ER, Kiyegi LF, Mwasamwaja AO, Kilonzo K, Hamel BCJ.

Case Rep Genet. 2017;2017:2348045. doi: 10.1155/2017/2348045. Epub 2017 Apr 9.

9.

Adenoma detection with blue-water infusion colonoscopy: a randomized trial.

Lesne A, Rouquette O, Touzet S, Petit-Laurent F, Tourlonias G, Pasquion A, Rivory J, Aguero Garcete G, Scanzi J, Chalumeau S, Chambon-Augoyard C, Moussata D, Leger-Nguyen F, Degeorges S, Chauvenet M, Fontanges T, Baubet S, Brulet P, Billioud C, Thimonier E, Stroeymeyt-Martin K, Hamel B, Graillot E, Cruiziat C, Scalone O, O'Brien M, Péré-Vergé D, Souquet JC, Phelip JM, Poincloux L, Poupon-Bourdy S, Denis A, Magaud L, Ponchon T, Pioche M.

Endoscopy. 2017 Aug;49(8):765-775. doi: 10.1055/s-0043-105073. Epub 2017 Apr 11.

PMID:
28399611
10.

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC.

Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4.

PMID:
27582382
11.

Clostridium difficile: New Insights into the Evolution of the Pathogenicity Locus.

Monot M, Eckert C, Lemire A, Hamiot A, Dubois T, Tessier C, Dumoulard B, Hamel B, Petit A, Lalande V, Ma L, Bouchier C, Barbut F, Dupuy B.

Sci Rep. 2015 Oct 8;5:15023. doi: 10.1038/srep15023.

12.

Vocal classification of vocalizations of a pair of Asian small-clawed otters to determine stress.

Scheifele PM, Johnson MT, Fry M, Hamel B, Laclede K.

J Acoust Soc Am. 2015 Jul;138(1):EL105-9. doi: 10.1121/1.4922768.

PMID:
26233050
13.
14.

Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation.

Saleh M, Commandeur J, Bocciardi R, Kinabo G, Hamel B.

Pan Afr Med J. 2015 Nov 24;22:299. doi: 10.11604/pamj.2015.22.299.8032. eCollection 2015.

15.

Factors associated with HIV-status disclosure to HIV-infected children receiving care at Kilimanjaro Christian Medical Centre in Moshi, Tanzania.

Mumburi LP, Hamel BC, Philemon RN, Kapanda GN, Msuya LJ.

Pan Afr Med J. 2014 May 15;18:50. doi: 10.11604/pamj.2014.18.50.2307. eCollection 2014.

16.

Adherence to antiretroviral therapy among HIV-infected children receiving care at Kilimanjaro Christian Medical Centre (KCMC), Northern Tanzania: A cross- sectional analytical study.

Nsheha AH, Dow DE, Kapanda GE, Hamel BC, Msuya LJ.

Pan Afr Med J. 2014 Mar 28;17:238. doi: 10.11604/pamj.2014.17.238.2280. eCollection 2014.

17.

Prognostic factors in patients with refractory ascites treated by transjugular intrahepatic porto-systemic shunt: From the liver to the kidney.

Hamel B, Guillaud O, Roman S, Vallin M, Pilleul F, Valette PJ, Henry L, Guibal A, Mion F, Dumortier J.

Dig Liver Dis. 2014 Nov;46(11):1001-7. doi: 10.1016/j.dld.2014.06.013. Epub 2014 Aug 2.

PMID:
25096966
18.

Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.

Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR.

J Clin Endocrinol Metab. 2014 Oct;99(10):E2067-75. doi: 10.1210/jc.2014-1836. Epub 2014 Jul 17.

19.

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.

Mundhofir FE, Nillesen WM, Van Bon BW, Smeets D, Pfundt R, van de Ven-Schobers G, Ruiterkamp-Versteeg M, Winarni TI, Hamel BC, Yntema HG, Faradz SM.

Indian J Hum Genet. 2013 Apr;19(2):171-8.

20.

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

de Brouwer AP, Nabuurs SB, Verhaart IE, Oudakker AR, Hordijk R, Yntema HG, Hordijk-Hos JM, Voesenek K, de Vries BB, van Essen T, Chen W, Hu H, Chelly J, den Dunnen JT, Kalscheuer VM, Aartsma-Rus AM, Hamel BC, van Bokhoven H, Kleefstra T.

Eur J Hum Genet. 2014 Apr;22(4):480-5. doi: 10.1038/ejhg.2013.169. Epub 2013 Jul 31.

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