Compounds > tryptophan

tryptophan and Abnormalities, Multiple

tryptophan has been researched along with Abnormalities, Multiple in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19901 (20.00)18.7374
1990's0 (0.00)18.2507
2000's3 (60.00)29.6817
2010's0 (0.00)24.3611
2020's1 (20.00)2.80

Authors

AuthorsStudies
Lamouchi, MT1
Clark, RD; Dykens, E; Friez, MJ; Graham, JM; Huddleston, L; Jones, KL; Moeschler, JB; Morford, J; Opitz, JM; Rogers, RC; Schwartz, CE; Simensen, R; Stevenson, RE; Visootsak, J1
Choi, SJ; Ki, CS; Kim, IS; Kim, JH; Kim, JW; Oh, SY; Park, HK; Park, KH1
Argentaro, A; Barroso, I; Clayton, A; Harley, VR; Jans, DA; John, A; Nagai, T; Ogata, T; Preiss, S; Schafer, AJ1
Freire-Maia, N1

Other Studies

5 other study(ies) available for tryptophan and Abnormalities, Multiple

ArticleYear
Cystic Fibrosis mutation W19X in Tunisia: Second case identified.
    La Tunisie medicale, 2020, Volume: 98, Issue:5

    Topics: Abnormalities, Multiple; Codon, Nonsense; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Gene Frequency; Genetic Testing; Humans; Tryptophan; Tunisia

2020
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
    American journal of medical genetics. Part A, 2008, Dec-01, Volume: 146A, Issue:23

    Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acid Substitution; Arginine; Child; Child Behavior Disorders; Communication; Humans; Male; Mediator Complex; Mental Retardation, X-Linked; Receptors, Thyroid Hormone; Social Behavior Disorders; Socialization; Syndrome; Tryptophan; Young Adult

2008
Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.
    Journal of human genetics, 2007, Volume: 52, Issue:8

    Topics: Abnormalities, Multiple; Adult; Amino Acid Substitution; Anal Canal; Arginine; Asian People; Female; Homeodomain Proteins; Humans; Korea; Male; Mutation; Pedigree; Rectum; Sacrum; Syndrome; Transcription Factors; Tryptophan

2007
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
    The Journal of biological chemistry, 2001, Jul-27, Volume: 276, Issue:30

    Topics: Abnormalities, Multiple; Active Transport, Cell Nucleus; Adult; Amino Acid Sequence; Animals; Bone and Bones; Cell Nucleus; Cells, Cultured; Circular Dichroism; COS Cells; Disorders of Sex Development; DNA; Electrophoresis, Polyacrylamide Gel; Female; Genes, Dominant; Heterozygote; High Mobility Group Proteins; Humans; Immunohistochemistry; Infant, Newborn; Karyopherins; Karyotyping; Kinetics; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Nuclear Proteins; Phenotype; Point Mutation; Polymorphism, Single-Stranded Conformational; Protein Binding; Protein Conformation; Protein Denaturation; Protein Structure, Tertiary; Sequence Analysis, DNA; SOX9 Transcription Factor; Spectrometry, Fluorescence; Structure-Activity Relationship; Temperature; Transcription Factors; Transcriptional Activation; Transfection; Tryptophan

2001
A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities.
    American journal of human genetics, 1970, Volume: 22, Issue:4

    Topics: Abnormalities, Multiple; Adolescent; Adult; Alopecia; Animals; Brazil; Breast; Child; Cleft Lip; Cleft Palate; Ear Deformities, Acquired; Ectodermal Dysplasia; Ectromelia; Electrocardiography; Electroencephalography; Growth Disorders; Heart Function Tests; Humans; Hypogonadism; Infant, Newborn; Intellectual Disability; Limb Deformities, Congenital; Male; Pedigree; Sibling Relations; Skin Abnormalities; Thyroid Gland; Tooth Abnormalities; Tryptophan

1970