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1.

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.

2.

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.

3.
4.

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.

5.

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.

6.

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.

7.

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.

8.

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.

9.
10.

Mutations in MED12 cause X-linked Ohdo syndrome.

Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP.

Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7.

11.

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.

Mende RH, Drake DP, Olomi RM, Hamel BC.

Case Rep Genet. 2012;2012:247683. doi: 10.1155/2012/247683. Epub 2012 Dec 10.

12.

Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.

Mundhofir FE, Yntema HG, van der Burgt I, Hamel BC, Faradz SM, van Bon BW.

Case Rep Genet. 2012;2012:949507. doi: 10.1155/2012/949507. Epub 2012 Dec 1.

13.

Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.

Mundhofir FE, Smeets D, Nillesen W, Winarni TI, Yntema HG, de Leeuw N, Hamel BC, Faradz SM, van Bon BW.

Gene. 2012 Dec 15;511(2):451-4. doi: 10.1016/j.gene.2012.09.018. Epub 2012 Sep 17.

PMID:
22995347
14.

Adult Phenotypes in Angelman- and Rett-Like Syndromes.

Willemsen MH, Rensen JH, van Schrojenstein-Lantman de Valk HM, Hamel BC, Kleefstra T.

Mol Syndromol. 2012 Apr;2(3-5):217-234. Epub 2012 Jan 13.

15.

The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.

Winarni TI, Mundhofir FE, Ediati A, Belladona M, Nillesen WM, Yntema HG, Hamel BC, Faradz SM, Hagerman RJ.

Clin Genet. 2013 Mar;83(3):263-8. doi: 10.1111/j.1399-0004.2012.01899.x. Epub 2012 Jun 6.

PMID:
22568721
16.

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

Voermans NC, Kempers M, Lammens M, van Alfen N, Janssen MC, Bönnemann C, van Engelen BG, Hamel BC.

Am J Med Genet A. 2012 Apr;158A(4):850-5. doi: 10.1002/ajmg.a.35232. Epub 2012 Mar 9. Erratum in: Am J Med Genet A. 2013 Feb;161A(2):403.

17.

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T.

J Med Genet. 2012 Mar;49(3):179-83. doi: 10.1136/jmedgenet-2011-100542.

PMID:
22368300
18.

Attentional set-shifting in fragile X syndrome.

Van der Molen MJ, Van der Molen MW, Ridderinkhof KR, Hamel BC, Curfs LM, Ramakers GJ.

Brain Cogn. 2012 Apr;78(3):206-17. doi: 10.1016/j.bandc.2011.12.008. Epub 2012 Jan 18.

PMID:
22261226
19.

Auditory change detection in fragile X syndrome males: a brain potential study.

Van der Molen MJ, Van der Molen MW, Ridderinkhof KR, Hamel BC, Curfs LM, Ramakers GJ.

Clin Neurophysiol. 2012 Jul;123(7):1309-18. doi: 10.1016/j.clinph.2011.11.039. Epub 2011 Dec 20.

PMID:
22192499
20.

A cytogenetic study in a large population of intellectually disabled Indonesians.

Mundhofir FE, Winarni TI, van Bon BW, Aminah S, Nillesen WM, Merkx G, Smeets D, Hamel BC, Faradz SM, Yntema HG.

Genet Test Mol Biomarkers. 2012 May;16(5):412-7. doi: 10.1089/gtmb.2011.0157. Epub 2011 Dec 22.

PMID:
22191675

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