A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

Robert M.W. Hofstra, Rudy M. Landsvater, Isabella Ceccherini, +9

Nature

Endocrine OncologyOncogenic AgentGeneticsThyroid DiseasePathology +4

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Robert M.W. Hofstra, Jan Osinga, Gita Tan-Sindhunata, +9

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic Epidemiology +9

Revertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene Conversion

Marcel F. Jonkman, Hans Scheffer, Rein P. Stulp, +6

Cell

Cell DivisionGeneticsGenetic EngineeringMolecular GeneticsChromosomal Rearrangement +3

RET andGDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

Robert M.W. Hofstra, Ying Wu, Rein P. Stulp, +11

Human Mutation

Gel SystemsEngineeringGeneticsMutation DetectionPathology +17

Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases.

Robert M.W. Hofstra, Tineke Stelwagen, Rein P. Stulp, +9

The Journal of Clinical Endocrinology & Metabolism

Somatic VariantGenetic DisorderMedicineGeneticsThyroid Disease +8

Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.

W J Lubbers, E. R. Brunt, Hans Scheffer, +4

Journal of Neurology Neurosurgery & Psychiatry

Rare DiseasesMendelian DisorderFamily MembersGenetic DisorderMedicine +10

A Mutation in the RET Protooncogene Associated with Multiple Endocrine Neoplasia Type 2B and Sporadic Medullary Thyroid Carcinoma

RMW Hostra, Rudy M. Landsvater, Isabella Ceccherini, +9

The Endocrinologist

Endocrine OncologyGeneticsThyroid DiseasePathologyRet Protooncogene Associated +4

RET Mutation Screening in Familial Cutaneous Lichen Amyloidosis and in Skin Amyloidosis Associated With Multiple Endocrine Neoplasia

Robert M.W. Hofstra, Rolf H. Sijmons, Tineke Stelwagen, +6

Journal of Investigative Dermatology

Mendelian DisorderGenetic DisorderMedicineRet Mutation ScreeningPathology +5

SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

Hans Scheffer, Jan Maarten Cobben, Rob G.J. Mensink, +3

European Journal of Human Genetics

Rare DiseasesSingle Allele DeletionSma CarrierGenetic EpidemiologyDiagnosis +5

Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum

Rein P. Stulp, Johanna C. Herkert, Arend Karrenbeld, +3

Hereditary Cancer in Clinical Practice

Lynch SyndromeSomatic VariantMsh2 Gene MutationMedicineGenetics +10