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Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity

Obesity surgery, 2020-02, Vol.30 (2), p.470-477

2020

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Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

Orphanet journal of rare diseases, 2019-12, Vol.14 (1), p.294-294, Article 294

2019

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The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency

Human reproduction (Oxford), 2014-07, Vol.29 (7), p.1585-1593

2014

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The association of CGG repeats in the FMR1 gene and timing of natural menopause

Human reproduction (Oxford), 2013-02, Vol.28 (2), p.496-501

2013

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Response to desmopressin in patients with mild hemophilia A caused by the F8 c.1910A>G, p.Asn637Ser mutation

Journal of thrombosis and haemostasis, 2013-12, Vol.11 (12), p.2179-2181

2013

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Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands

Pediatric rheumatology online journal, 2015-09, Vol.13 (Suppl 1), p.P51-P51, Article P51

2015

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MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

Nature genetics, 2000-04, Vol.24 (4), p.342-343

2000

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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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A diagnostic protocol for adult-onset glycogen storage disease type II

Neurology, 1999-03, Vol.52 (4), p.851-851

1999

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A novel germline mutation of PTEN associated with brain tumours of multiple lineages

British journal of cancer, 2002-05, Vol.86 (10), p.1586-1591

2002

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Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I

The Journal of clinical investigation, 1994-02, Vol.93 (2), p.486-492

1994

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Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonates

Journal of inherited metabolic disease, 2001-06, Vol.24 (3), p.352-358

2001

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The Significance of Fragile X Mental Retardation Gene 1 CGG Repeat Sizes in the Normal and Intermediate Range in Women With Primary Ovarian Insufficiency

Obstetrical & gynecological survey, 2014-11, Vol.69 (11), p.666-667

2014

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Heerlen Polymorphism of Protein S, an Immunologic Polymorphism Due to Dimorphism of Residue 460

Blood, 1990-08, Vol.76 (3), p.538-548

1990

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Intron-exon organization of the active human protein S gene PSα and its pseudogene PSβ : duplication and silencing during primate evolution

Biochemistry (Easton), 1990-08, Vol.29 (34), p.7853-7861

1990

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Polymorphic Detection of a Parthenogenetic Maternal and Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite

American journal of human genetics, 1998-04, Vol.62 (4), p.937-940

1998

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Somatic mutations of the RET proto-oncogene are not required for tumor development in multiple endocrine neoplasia type 2 (MEN 2) gene carriers

Cancer research (Chicago, Ill.), 1996-11, Vol.56 (21), p.4853-4855

1996

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Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC : two novel mutations and one de novo mutation for MEN 2A

Human genetics, 1996, Vol.97 (1), p.11-14

1996

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Predictive DNA testing for multiple endocrine neoplasia 2: A therapeutic challenge of prophylactic thyroidectomy in very young children

Journal of pediatric surgery, 1999-04, Vol.34 (4), p.568-571

1999

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Familial medullary thyroid carcinoma: Not a distinct entity? Genotype-phenotype correlation in a large family

The American journal of medicine, 1996-12, Vol.101 (6), p.635-641

1996

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From medical history and biochemical tests to presymptomatic treatment in a large MEN 2A family

Journal of internal medicine, 1995-10, Vol.238 (4), p.347-356

1995

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Mandibuloacral dysplasia type B , clinical diagnostic criteria and management guidelines

Orphanet journal of rare diseases, 2019-12, Vol.14 (1)

2019

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Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding

European journal of clinical investigation, 2000-06, Vol.30 (6), p.487-492

2000

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Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

Journal of medical genetics, 1995-10, Vol.32 (10), p.836-837

1995

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Partial Protein S Gene Deletion in a Family With Hereditary Thrombophilia

Blood, 1989-02, Vol.73 (2), p.479-483

1989

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Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency

The association of CGG repeats in the FMR1 gene and timing of natural menopause

Response to desmopressin in patients with mild hemophilia A caused by the F8 c.1910A>G, p.Asn637Ser mutation

Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

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

A diagnostic protocol for adult-onset glycogen storage disease type II

A novel germline mutation of PTEN associated with brain tumours of multiple lineages

Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I

Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonates

The Significance of Fragile X Mental Retardation Gene 1 CGG Repeat Sizes in the Normal and Intermediate Range in Women With Primary Ovarian Insufficiency

Heerlen Polymorphism of Protein S, an Immunologic Polymorphism Due to Dimorphism of Residue 460

Intron-exon organization of the active human protein S gene PSα and its pseudogene PSβ : duplication and silencing during primate evolution

Polymorphic Detection of a Parthenogenetic Maternal and Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite

Somatic mutations of the RET proto-oncogene are not required for tumor development in multiple endocrine neoplasia type 2 (MEN 2) gene carriers

Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC : two novel mutations and one de novo mutation for MEN 2A

Predictive DNA testing for multiple endocrine neoplasia 2: A therapeutic challenge of prophylactic thyroidectomy in very young children

Familial medullary thyroid carcinoma: Not a distinct entity? Genotype-phenotype correlation in a large family

From medical history and biochemical tests to presymptomatic treatment in a large MEN 2A family

Mandibuloacral dysplasia type B , clinical diagnostic criteria and management guidelines

Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

Partial Protein S Gene Deletion in a Family With Hereditary Thrombophilia

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