Founder effects facilitate genotyping approach to molecular diagnosis in familial hypercholesterolaemia in Sweden

Atherosclerosis ◽

10.1016/j.atherosclerosis.2021.06.668 ◽

2021 ◽

Vol 331 ◽

pp. e218

Author(s):

P. Benedek ◽

H. Jiao ◽

K. Duvefelt ◽

T. Skoog ◽

M. Linde ◽

...

Keyword(s):

Molecular Diagnosis ◽

Familial Hypercholesterolaemia ◽

Founder Effects

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Molecular diagnosis of familial hypercholesterolaemia

Current Opinion in Lipidology ◽

10.1097/mol.0000000000000430 ◽

2017 ◽

Vol 28 (4) ◽

pp. 313-320 ◽

Author(s):

Colin A. Graham ◽

Mark J. Latten ◽

Padraig J. Hart

Keyword(s):

Molecular Diagnosis ◽

Familial Hypercholesterolaemia

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W14.379 Novel LDL-receptor gene mutations in Russian patients with familial hypercholesterolaemia

Atherosclerosis ◽

10.1016/s0021-9150(04)90378-4 ◽

2004 ◽

Vol 5 (1) ◽

pp. 88

Author(s):

A MESHKOV

Keyword(s):

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Ldl Receptor ◽

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1504: Molecular Diagnosis and Staging of Prostate Cancer Using Clusterin in Real Time Reverse Transcription Polymerase Chain Reaction (RT-PCR)

The Journal of Urology ◽

10.1016/s0022-5347(18)33708-x ◽

2006 ◽

Vol 175 (4S) ◽

pp. 485-486

Author(s):

Sabarinath B. Nair ◽

Christodoulos Pipinikas ◽

Roger Kirby ◽

Nick Carter ◽

Christiane Fenske

Keyword(s):

Prostate Cancer ◽

Polymerase Chain Reaction ◽

Real Time ◽

Molecular Diagnosis ◽

Reverse Transcription ◽

Rt Pcr ◽

Chain Reaction ◽

Polymerase Chain

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Genetic intra-tumour heterogeneity in epithelial ovarian cancer and its implications for molecular diagnosis of tumours

Yearbook of Pathology and Laboratory Medicine ◽

10.1016/s1077-9108(08)70618-2 ◽

2008 ◽

Vol 2008 ◽

pp. 135-136 ◽

Author(s):

D. Jukic

Keyword(s):

Ovarian Cancer ◽

Epithelial Ovarian Cancer ◽

Molecular Diagnosis ◽

Tumour Heterogeneity

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P2917 Prenatal molecular diagnosis is possible in familial hypertrophic cardiomyopathy

European Heart Journal ◽

10.1016/s0195-668x(03)95695-8 ◽

2003 ◽

Vol 24 (5) ◽

pp. 561

Author(s):

P CHARRON

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Molecular Diagnosis ◽

Familial Hypertrophic Cardiomyopathy

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Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing

Neuropediatrics ◽

10.1055/s-0033-1337715 ◽

2013 ◽

Vol 44 (02) ◽

Author(s):

R Kopajtich ◽

T Haack ◽

B Haberberger ◽

J Mayr ◽

W Sperl ◽

...

Keyword(s):

Exome Sequencing ◽

Respiratory Chain ◽

Molecular Diagnosis ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Deficiency ◽

Mitochondrial Respiratory

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Arg 506 Gin Factor V Mutation (Factor V Leiden) in Patients with Familial Hypercholesterolaemia

Thrombosis and Haemostasis ◽

10.1055/s-0038-1650406 ◽

1996 ◽

Vol 75 (06) ◽

pp. 975-976

Author(s):

Alpo Vuorio ◽

Hannu Turtola ◽

Kimmo Kontula

Keyword(s):

Familial Hypercholesterolaemia ◽

Factor V Leiden ◽

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GENETIC ANALYSIS AND MOLECULAR DIAGNOSIS OF IRANIAN PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASES

10.26226/morressier.57bc1758d462b80290b4d32d ◽

2016 ◽

Author(s):

Hassan Abolhassani

Keyword(s):

Genetic Analysis ◽

Primary Immunodeficiency ◽

Molecular Diagnosis ◽

Primary Immunodeficiency Diseases ◽

Immunodeficiency Diseases ◽

Iranian Patients

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THE PRIMARY IMMUNODEFICIENCY RESEARCH GROUP: A MULTIDISCPLINARY TEAM PROVIDING MOLECULAR DIAGNOSIS OF PRIMARY IMMUNODEFICIENCY DISEASES IN SOUTH AFRICA

10.26226/morressier.57bc1758d462b80290b4d2dd ◽

2016 ◽

Author(s):

Craig Kinnear

Keyword(s):

South Africa ◽

Primary Immunodeficiency ◽

Molecular Diagnosis ◽

Research Group ◽

Primary Immunodeficiency Diseases ◽

Immunodeficiency Diseases ◽

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BIG DELETIONS IN COMMON PID-RELATED GENES AND ITS DETECTION FOR MOLECULAR DIAGNOSIS

10.26226/morressier.594a7d45d462b8028d89341c ◽

2017 ◽

Author(s):

María Bravo

Keyword(s):

Molecular Diagnosis

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