UB Paderborn / Katalog / Suche / in CDI

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Genetics in medicine, 2011-09, Vol.13 (9), p.841-847

2011

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Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study

BMC medical genetics, 2010-07, Vol.11 (1), p.113-113, Article 113

2010

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Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society

European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.452-457

2014

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Psychomotor developmental delay and epilepsy in an offspring of father–daughter incest: quantification of the causality probability

International journal of legal medicine, 2014-09, Vol.128 (5), p.749-750

ten Kate, Leo P.

2014

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Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

Journal of cystic fibrosis, 2010-05, Vol.9 (3), p.165-178

2010

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Psychomotor developmental delay and epilepsy in an offspring of father–daughter incest: quantification of the causality probability

International journal of legal medicine, 2010-11, Vol.124 (6), p.667-668

ten Kate, Leo P.

2010

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Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands

Genetics in medicine, 2008-11, Vol.10 (11), p.820-830

2008

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First steps in exploring prospective exome sequencing of consanguineous couples

European journal of medical genetics, 2014-11, Vol.57 (11), p.613-616

2014

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Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

European journal of human genetics : EJHG, 2012-07, Vol.20 (7), p.729-733

2012

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Attitudes of Potential Providers Towards Preconceptional Cystic Fibrosis Carrier Screening

Journal of genetic counseling, 2004-02, Vol.13 (1), p.31-44

2004

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The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas

Molecular human reproduction, 2004-08, Vol.10 (8), p.589-598

2004

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Challenges in the care for consanguineous couples: an exploratory interview study among general practitioners and midwives

BMC family practice, 2012-10, Vol.13, p.105

2012

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TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

Journal of medical genetics, 2010-06, Vol.47 (6), p.421-428

2010

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Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria

Genetics in medicine, 2002-07, Vol.4 (4), p.241-249

2002

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Segregation ratio in cranio-cerebello-cardiac syndrome

European journal of human genetics : EJHG, 2006-09, Vol.14 (9), p.1054-1057

2006

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CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening

Genetic testing, 2008-03, Vol.12 (1), p.25

2008

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Testing the children: do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors? A cross-sectional study in five countries in the European Union

Genetic testing and molecular biomarkers, 2009-06, Vol.13 (3), p.367

2009

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Current practice and future interest of GPs and prospective parents in pre-conception care in The Netherlands

Family practice, 2004-06, Vol.21 (3), p.307-309

2004

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Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome

American journal of medical genetics, 2003-12, Vol.123A (3), p.243-248

2003

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Comparison of activities and attitudes of general practitioners concerning genetic counseling over a 10-year time-span

Patient education and counseling, 2003-06, Vol.50 (2), p.145-149

2003

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Offering Preconceptional Cystic Fibrosis Carrier Couple Screening in the Absence of Established Preconceptional Care Services

Community genetics, 2003, Vol.6 (1), p.5-13

2003

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Costs, effects, and savings of screening for cystic fibrosis gene carriers

Journal of epidemiology and community health (1979), 1998-07, Vol.52 (7), p.459-467

1998

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Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1

Hereditas, 2003-09, Vol.139 (1), p.64-67

2003

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How Should Preconceptional Cystic Fibrosis Carrier Screening Be Provided? Opinions of Potential Providers and the Target Population

Community genetics, 2003, Vol.6 (3), p.157-165

2003

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Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families

American journal of medical genetics, 2002-07, Vol.110 (4), p.324-331

2002

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Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study

Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society

Psychomotor developmental delay and epilepsy in an offspring of father–daughter incest: quantification of the causality probability

Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

Psychomotor developmental delay and epilepsy in an offspring of father–daughter incest: quantification of the causality probability

Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands

First steps in exploring prospective exome sequencing of consanguineous couples

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

Attitudes of Potential Providers Towards Preconceptional Cystic Fibrosis Carrier Screening

The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas

Challenges in the care for consanguineous couples: an exploratory interview study among general practitioners and midwives

TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria

Segregation ratio in cranio-cerebello-cardiac syndrome

CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening

Testing the children: do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors? A cross-sectional study in five countries in the European Union

Current practice and future interest of GPs and prospective parents in pre-conception care in The Netherlands

Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome

Comparison of activities and attitudes of general practitioners concerning genetic counseling over a 10-year time-span

Offering Preconceptional Cystic Fibrosis Carrier Couple Screening in the Absence of Established Preconceptional Care Services

Costs, effects, and savings of screening for cystic fibrosis gene carriers

Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1

How Should Preconceptional Cystic Fibrosis Carrier Screening Be Provided? Opinions of Potential Providers and the Target Population

Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families

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