M. Weterman

发表

S. Ennis, C. Auffray, W. Linehan, 1996 .

Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

F. Baas, M. de Visser, M. Weterman, 2006, Neurology.

Genomic structure, chromosomal localization, and embryonic expression of the mouse homolog of PRCC, a gene associated with papillary renal cell carcinoma

G. Merkx, M. Weterman, M. Wilbrink, 2001, Cytogenetic and Genome Research.

Molecular markers of melanocytic tumor progression.

D. Ruiter, G. V. van Muijen, H. Bloemers, 1994, Laboratory investigation; a journal of technical methods and pathology.

Molecular cloning of the papillary renal cell carcinoma-associated translocation (X;1)(p11;q21) breakpoint.

E. van den Berg, S. Fisher, I. Janssen, 1996, Cytogenetics and cell genetics.

Early‐onset gastric carcinomas display molecular characteristics distinct from gastric carcinomas occurring at a later age

G. Offerhaus, L. Cirnes, M. Weterman, 2004, The Journal of pathology.

DMO04 Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance

F. Baas, M. Caan, C. Majoie, 2007 .

Renal cell cancer: chromosome 3 translocations as risk factors.

A. V. van Kessel, M. Ligtenberg, A. Smits, 1999, Journal of the National Cancer Institute.

Phenotype of Charcot–Marie–Tooth disease Type 2

F. Baas, R. D. de Haan, B. V. van Engelen, 2007, Neurology.

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.

F. Baas, H. J. Schelhaas, B. V. van Engelen, 2012, Human molecular genetics.

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

F. Baas, S. Oprescu, A. Antonellis, 2018, Human molecular genetics.

A LRSAM1 mutation links Charcot–Marie–Tooth type 2 to Parkinson's disease

F. Baas, B. Bloem, H. J. Schelhaas, 2015, Annals of clinical and translational neurology.

Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations

E. van den Berg, S. Störkel, A. V. van Kessel, 1995, Genes, chromosomes & cancer.

Pathogenic variants in three families with distal muscle involvement

F. Baas, E. Aronica, H. Goebel, 2022, Neuromuscular Disorders.

Deregulated expression of EZH2 in congenital brainstem disconnection

F. Baas, E. Aronica, B. Harding, 2017, Neuropathology and applied neurobiology.

Expression of Calcyclin in Human Melanocytic Lesions 1

D. Ruiter, H. Bloemers, M. Weterman, 2006 .

Expression of calcyclin in human melanoma cell lines correlates with metastatic behavior in nude mice.

J. Kuźnicki, D. Ruiter, G. V. van Muijen, 1992, Cancer research.

Functional analysis of the human calcyclin gene promoter in a panel of human melanoma cell lines.

H. Bloemers, M. Weterman, G. Swart, 1995, Biochemical and Biophysical Research Communications - BBRC.

nmb, a novel gene, is expressed in low‐metastatic human melanoma cell lines and xenografts

N. Ajubi, D. Ruiter, G. V. van Muijen, 1995, International journal of cancer.

Expression of nma, a novel gene, inversely correlates with the metastatic potential of human melanoma cell lines and xenografts

A. V. van Kessel, H. Bloemers, M. Weterman, 1996, International journal of cancer.

Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas.

E. Petty, G. Vassart, H. El Housni, 2001, Cancer research.

Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.

A. G. Kessel, M. Weterman, M. Wilbrink, 1996, Proceedings of the National Academy of Sciences of the United States of America.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

J. Lupski, F. Baas, P. Liu, 2010, American journal of human genetics.

Increasing epidermal growth factor receptor expression in human melanocytic tumor progression.

D. Ruiter, S. Moretti, G. V. van Muijen, 1992, The Journal of investigative dermatology.

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Xiang-Dong Fu, Frank Baas, Murat Gunel, 2014, Cell.

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

F. Baas, E. Aronica, C. Angelini, 2013, Brain : a journal of neurology.

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease

F. Ruissen, F. Baas, J. Samijn, 2010, European Journal of Human Genetics.

LAD-1/variant syndrome is caused by mutations in FERMT3.

Dirk Roos, Frank Baas, Arthur J Verhoeven, 2009, Blood.

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Ingeborg Krägeloh-Mann, Francesco Muntoni, Peter Nürnberg, 2008, Nature Genetics.

An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation.

E. van den Berg, M. Ligtenberg, D. Smeets, 1998, American journal of human genetics.

Animal Cytogenetics and Comparative Mapping

G. Merkx, M. Weterman, M. Wilbrink, 2001 .

Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.

F. Baas, M. Caan, C. Majoie, 2007, Brain : a journal of neurology.

Expression of calcyclin in human melanocytic lesions.

D. Ruiter, G. V. van Muijen, H. Bloemers, 1993, Cancer research.

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot–Marie–Tooth disease 2P

F. Baas, N. Zelcer, M. van den Berg, 2017, Human molecular genetics.

LRSAM 1-mediated ubiquitylation is disrupted in axonal Charcot – Marie – Tooth disease 2 P

F. Ruissen, F. Baas, N. Zelcer, 2017 .

Response: Adherence to the LAD variant form

F. Baas, T. Kuijpers, A. Tool, 2007 .

FERMT3 LAD-1/variant syndrome is caused by mutations in

F. Baas, O. Sanal, K. Seeger, 2013 .

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.

F. Baas, G. Nürnberg, P. Nürnberg, 2012, Human molecular genetics.