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A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome

Hereditary cancer in clinical practice, 2010-08, Vol.8 (1), p.7-7, Article 7

2010

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First report of a de novo germline mutation in the MLH1 gene

World journal of gastroenterology : WJG, 2006-02, Vol.12 (5), p.809

2006

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

Hereditary cancer in clinical practice, 2008-02, Vol.6 (1), p.15-21

2008

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

Nature genetics, 1996-04, Vol.12 (4), p.445-447

1996

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

Nature (London), 1994-01, Vol.367 (6461), p.375-376

1994

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

Human mutation, 2000, Vol.15 (5), p.418-429

2000

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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

European journal of human genetics : EJHG, 2000-02, Vol.8 (2), p.79-86

2000

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Clinical vignette: early-onset head and neck cancer: beware of fanconi anaemia

Hereditary cancer in clinical practice, 2004-07, Vol.2 (3), p.147-148

2004

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DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene

Oncogene, 1994-10, Vol.9 (10), p.3025-3029

1994

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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

The journal of clinical endocrinology and metabolism, 1996-08, Vol.81 (8), p.2881-2884

1996

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Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE

Nucleic acids research, 1999-08, Vol.27 (15), p.e9

1999

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

Journal of investigative dermatology, 1996-08, Vol.107 (2), p.215-218

1996

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No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma

Human genetics, 1996-03, Vol.97 (3), p.362-364

1996

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SMA carrier testing - validation of hemizygous SMN exon7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

European journal of human genetics : EJHG, 2000-02, Vol.8 (2), p.79-86

2000

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Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder : the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa

Human genetics, 1997-08, Vol.100 (2), p.230-235

1997

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

Human mutation, 2000-05, Vol.15 (5), p.418-429

2000

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Analysis of a metastasizing testicular mixed gonadal stromal tumor with osteosarcoma components suggests that a malignant tumor with the histology of osteosarcoma may develop without primary involvement of RB1 and TP53

Cancer research (Chicago, Ill.), 1992-12, Vol.52 (23), p.6705-6707

1992

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No mutations found byRET mutation scanning in sporadic and hereditary neuroblastoma

Human genetics, 1996-03, Vol.97 (3), p.362-364

1996

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A single mutation in the RET proto-oncogene is associated with multiple endocrine neoplasia type 2B

Cancer genetics and cytogenetics, 1994-10, Vol.77 (2), p.175-175

1994

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Mutations in the RET proto-oncogene in sporadic medullary thyroid carcinomas

Cancer genetics and cytogenetics, 1994-10, Vol.77 (2), p.175-175

1994

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

Journal of neurology, neurosurgery and psychiatry, 1995-10, Vol.59 (4), p.400-405

1995

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A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome

First report of a de novo germline mutation in the MLH1 gene

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

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

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

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

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

Clinical vignette: early-onset head and neck cancer: beware of fanconi anaemia

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene

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

Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE

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

No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma

SMA carrier testing - validation of hemizygous SMN exon7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder : the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa

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

Analysis of a metastasizing testicular mixed gonadal stromal tumor with osteosarcoma components suggests that a malignant tumor with the histology of osteosarcoma may develop without primary involvement of RB1 and TP53

No mutations found byRET mutation scanning in sporadic and hereditary neuroblastoma

A single mutation in the RET proto-oncogene is associated with multiple endocrine neoplasia type 2B

Mutations in the RET proto-oncogene in sporadic medullary thyroid carcinomas

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

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