Publications by authors named "Ben Hamel"

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Novel CTR9 germline pathogenic splice site variant in siblings with Wilms tumor from Tanzania.
Ali Iman, Esther Majaliwa, Lossim G Kambainei, Alex Mremi, Arjen R Mensenkamp, Ben C Hamel

Eur J Med Genet· December 2024

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Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father.
Rahim Karim Damji, Mohamed Zahir Alimohamed, Hedi L Claahsen-van der Grinten, Dineke Westra, Ben Hamel

Endocrinol Diabetes Metab Case Rep· April 2023

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Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1.
Ronald M Mbwasi, Alessandra Maugeri, Helvi N Joel, Adnan Sadiq, Bilal Ahmad, Ben Cj Hamel

Eur J Med Genet· November 2022

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Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa.
Marieke C J Dekker, Rose Chengo, Happiness H Kumburu, Erik-Jan Kamsteeg, Ben C Hamel

Tremor Other Hyperkinet Mov (N Y)· October 2021

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Carpenter syndrome in a patient from Tanzania.
Jay Lodhia, Iago Rego-Garcia, Sengua Koipapi, Adnan Sadiq, David Msuya, Ben Hamel

Am J Med Genet A· March 2021

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A Longitudinal Comparison of Environmental Sound Recognition in Adults With Hearing Aids Before and After Cochlear Implantation.
Michael S Harris, Aaron C Moberly, Ben L Hamel, Kara Vasil, Christina L Runge

J Speech Lang Hear Res· March 2021

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Inauguration of the Tanzania Society of Human Genetics: Biomedical Research in Tanzania with Emphasis on Human Genetics and Genomics.
Mohamed Zahir Alimohamed, Aneth David Mwakilili, Kenneth Mbwanji, Zainab Karim Manji, Frida Kaywanga, Ben Hamel

Am J Trop Med Hyg· December 2020

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Two cases of Prune Belly Syndrome from Kagera Region Tanzania.
Jonas P Kessy, Rune N Philemon, Ben C Hamel

East Afr Health Res J· June 2020

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Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.
Yin-Huai Chen, Giedre Grigelioniene, Phillip T Newton, Jacob Gullander, Maria Elfving, Ben Hamel

J Exp Med· March 2020

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Ellis-van Creveld syndrome in a patient from Tanzania.
Marieke C J Dekker, Adnan M Sadiq, Mubashir A Jusabani, Vivian J Mdavire, Frank Baas, Ben C J Hamel

Am J Med Genet A· October 2019

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Camurati-Engelmann disease: a case report from sub-Saharan Africa.
Amos O Mwasamwaja, Elifuraha W Mkwizu, Elichilia R Shao, Clement F Kalambo, Isaack Lyaruu, Ben C Hamel

Oxf Med Case Reports· July 2018

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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.
Elichilia R Shao, Lucas F Kiyegi, Amos O Mwasamwaja, Kajiru Kilonzo, Ben C J Hamel

Case Rep Genet· April 2017

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Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation.
Mohammed Saleh, Joost Commandeur, Renata Bocciardi, Grace Kinabo, Ben Hamel

Pan Afr Med J· December 2016

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Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
A Kemal Topaloglu, Alejandro Lomniczi, Doris Kretzschmar, Gregory A Dissen, L Damla Kotan, Ben C Hamel

J Clin Endocrinol Metab· October 2014

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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
Arjan P M de Brouwer, Sander B Nabuurs, Ingrid E C Verhaart, Astrid R Oudakker, Roel Hordijk, Ben C J Hamel

Eur J Hum Genet· April 2014

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Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.
Farmaditya E P Mundhofir, Willy M Nillesen, Bregje W M Van Bon, Dominique Smeets, Rolph Pfundt, Ben C J Hamel

Indian J Hum Genet· April 2013

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Mutations in MED12 cause X-linked Ohdo syndrome.
Anneke T Vulto-van Silfhout, Bert B A de Vries, Bregje W M van Bon, Alexander Hoischen, Martina Ruiterkamp-Versteeg, Ben C J Hamel

Am J Hum Genet· March 2013

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p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
Farmaditya E P Mundhofir, Erik A Sistermans, Sultana M H Faradz, Ben C J Hamel

Singapore Med J· March 2013

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Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.
Rose H Mende, David P Drake, Raimos M Olomi, Ben C J Hamel

Case Rep Genet· January 2013

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Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.
Farmaditya E P Mundhofir, Dominique Smeets, Willy Nillesen, Tri Indah Winarni, Helger G Yntema, Ben C J Hamel

Gene· December 2012

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Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.
Farmaditya E P Mundhofir, Helger G Yntema, Ineke van der Burgt, Ben C J Hamel, Sultana M H Faradz

Case Rep Genet· December 2012

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Assessment of left ventricular geometrical patterns and function among hypertensive patients at a tertiary hospital, Northern Tanzania.
Lairumbe Korduni Silangei, Venance Philis Maro, Helmut Diefenthal, Gibson Kapanda, Matthew Dewhurst, Ben Hamel

BMC Cardiovasc Disord· November 2012

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A cytogenetic study in a large population of intellectually disabled Indonesians.
Farmaditya E P Mundhofir, Tri Indah Winarni, Bregje W van Bon, Siti Aminah, Willy M Nillesen, Ben C J Hamel

Genet Test Mol Biomarkers· May 2012

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Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
Marjolein H Willemsen, Lisenka E L Vissers, Michèl A A P Willemsen, Bregje W M van Bon, Thessa Kroes, Ben C J Hamel

J Med Genet· March 2012

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Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Cecilie Bredrup, Sophie Saunier, Machteld M Oud, Torunn Fiskerstrand, Alexander Hoischen, Ben C J Hamel

Am J Hum Genet· November 2011

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