Concepedia

Lethal Phenotype Genotyping

Lethal Phenotype Genotyping is a genetic analysis method that identifies specific genotypic variants responsible for embryonic lethality by correlating genotype with phenotypic outcomes during early development.

8

Publications

366

Citations

70

Authors

24

Institutions

Publications per year

2017–2026

1

Parents

Publications

8

Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of <i>TSPYL</i> loss of function

Erik G. Puffenberger, Diane Hu‐Lince, Jennifer M. Parod et al. · Proceedings of the National Academy of Sciences · 2004 · 134 citations · Full text

, , +15

A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

Leena Karttunen, Michael Raghunath, Lasse Lönnqvist et al. · PubMed · 1994 · 64 citations

, , +12

Influences of Reduced Expression of Maternal Bone Morphogenetic Protein 2 on Mouse Embryonic Development

Ajeet P. Singh, Trisha Castranio, Greig Scott et al. · Sexual Development · 2008 · 42 citations · Full text

, , +17

Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease

Amparo Chabás, Laura Gort, Anna Dı́az-Font et al. · Blood Cells Molecules and Diseases · 2005 · 36 citations

, , +14

Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse

Jennifer Kasten, Chuhong Hu, Ragini Bhargava et al. · Molecular Genetics and Metabolism · 2013 · 32 citations · Full text

, , +4

1–5 of 8

Authors

70

  1. JF
    Javier F. Cárdenas

    Barrow Neurological Institute, United States

    1 publications · 134 citations

    1

    h-index

  2. SR
    Siegfried Ruppert

    German Cancer Research Center, Germany

    1 publications · 28 citations

    1

    h-index

  3. LL
    Lasse Lönnqvist

    Institute for Molecular Medicine Finland, Finland

    1 publications · 64 citations

    1

    h-index

  4. TM
    Terry Magnuson

    University of North Carolina at Chapel Hill, United States

    1 publications · 28 citations

    1

    h-index

  5. CH
    Chuhong Hu

    University of California, Los Angeles, United States

    1 publications · 32 citations

    1

    h-index

1–5 of 70

Institutions

24

  1. The University of Texas at San Antonio Health Science Center

    San Antonio, United States

    2 h-index

    4 publications

    84 citations

  2. Barrow Neurological Institute

    Phoenix, United States

    1 h-index

    16 publications

    2.1K citations

  3. German Cancer Research Center

    Heidelberg, Germany

    1 h-index

    3 publications

    84 citations

  4. Heidelberg University

    Heidelberg, Germany

    1 h-index

    3 publications

    84 citations

  5. University of Colorado Denver

    Denver, United States

    1 h-index

    1 publications

    32 citations

  6. Lund University

    Lund, Sweden

    1 h-index

    1 publications

    28 citations

  7. Translational Genomics Research Institute

    Phoenix, United States

    1 h-index

    16 publications

    2.1K citations

  8. Case Western Reserve University

    Cleveland, United States

    1 h-index

    4 publications

    112 citations

1–8 of 24

Venues

  1. Molecular Genetics and Metabolism

    2 publications · 48 citations

    2

    h-index

  2. PubMed

    Repository · 1 publications · 64 citations

    1

    h-index

  3. Blood Cells Molecules and Diseases

    BCMD · 1 publications · 36 citations

    1

    h-index

  4. Sexual Development

    1 publications · 42 citations

    1

    h-index

  5. Mechanisms of Ageing and Development

    1 publications · 14 citations

    1

    h-index

1–5