Publications by authors named "Ben C 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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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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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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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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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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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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Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases.
Anke G M Hendriks, Nicol C Voermans, Joost Schalkwijk, Ben C Hamel, Michelle M van Rossum

Clin Dysmorphol· January 2012

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Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability.
Marjolein H Willemsen, Astrid Vallès, Laurens A M H Kirkels, Mathilde Mastebroek, Nikkie Olde Loohuis, Ben C J Hamel

J Med Genet· December 2011

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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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The clinical spectrum of complete FBN1 allele deletions.
Yvonne Hilhorst-Hofstee, Ben C J Hamel, Joke B G M Verheij, Marry E B Rijlaarsdam, Grazia M S Mancini

Eur J Hum Genet· March 2011

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Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.
Marjolein H Willemsen, Nicole de Leeuw, Catherine Mercer, Helen Eisenhauer, Joanne Morris, Ben C J Hamel

Am J Med Genet A· January 2011

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Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome.
Nicol C Voermans, Hans Knoop, Nicole van de Kamp, Ben C Hamel, Gijs Bleijenberg

Semin Arthritis Rheum· December 2010

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The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
Yvonne Hilhorst-Hofstee, Marry E B Rijlaarsdam, Arthur J H A Scholte, Marietta Swart-van den Berg, Michel I M Versteegh, Ben C Hamel

Hum Mutat· December 2010

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Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
Dorien Lugtenberg, Luiz Zangrande-Vieira, Maria Kirchhoff, Annabel C Whibley, Astrid R Oudakker, Ben C J Hamel

Am J Med Genet A· March 2010

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Neurologic aspects of MECP2 gene duplication in male patients.
Bernard Echenne, Agathe Roubertie, Dorien Lugtenberg, Titske Kleefstra, Ben C J Hamel

Pediatr Neurol· September 2009

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Neuromuscular involvement in various types of Ehlers-Danlos syndrome.
Nicol C Voermans, Nens van Alfen, Sigrid Pillen, Martin Lammens, Joost Schalkwijk, Ben C J Hamel

Ann Neurol· June 2009

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