single-gene defects

出典: meddic


UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

英文文献

  • SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
  • Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC.SourceMedical Genetics Unit, Niguarda Ca' Granda Hospital, Milan, Italy.
  • Gene.Gene.2014 Jan 1;533(1):398-402. doi: 10.1016/j.gene.2013.09.053. Epub 2013 Oct 3.
  • BACKGROUND: Oculocutaneous Albinism (OCA) is a heterogeneous group of inherited diseases involving hair, skin and eyes. To date, six forms are recognized on the effects of different melanogenesis genes. OCA4 is caused by mutations in SLC45A2 showing a heterogeneous phenotype ranging from white hair,
  • PMID 24096233
  • Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review.
  • Chen CP, Chang TY, Guo WY, Wu PC, Wang LK, Chern SR, Wu PS, Su JW, Chen YT, Chen LF, Wang W.SourceDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
  • Gene.Gene.2013 Dec 10;532(1):152-9. doi: 10.1016/j.gene.2013.09.044. Epub 2013 Sep 19.
  • We report a molecular cytogenetic characterization of 17p13.3 deletion syndrome by array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH) and quantitative polymerase chain reaction (qPCR) in a fetus with lissencephaly, corpus callosum dysgenesis, ventriculomegaly,
  • PMID 24055730

和文文献

  • Complementation of a Defect in the Asparagine-Linked Glycosylation of a Mouse FM3A Mutant G258 Cell Line by Spheroplast Fusion of a Human Mega YAC Clone 923f5
  • Bioscience, biotechnology, and biochemistry 76(1), 108-114, 2012-01-23
  • NAID 10030398673
  • 繊毛病
  • Regulation of Complex Brain Wiring via Diverse Ig Receptor Arising from a Single Gene

関連リンク

Diseases exist, though, that are not inherited in accordance with Mendel's laws. To these belong defects of the mitochondrial genome as well as illnesses that are due to alterations of various genes (polygeny) or in which ...
... we refer to it as a single gene genetic disorder or a Mendelian disorder Types of single gene disorders The occurrence of a disease caused by a single gene mutation may occur in several main patterns or modes. These are ...

関連画像

Clinical utility of genetic tests for Medacad Wiki - Medical Geneticsvan Zutphen StaalconstructiesBirth Defects: Single gene disordersOverview of Single Gene Defects | CHOP Genetic Disorder Images | CelebrityPixx


★リンクテーブル★
関連記事single」「defect」「sing」「gene」「singles

single」

  [★]

  • adj.
  • 単一の、一回の、、(薬物投与)単回の
  • n.
individualmonoprivateselectsimpleunity

WordNet   license wordnet

「used of flowers having usually only one row or whorl of petals; "single chrysanthemums resemble daisies and may have more than one row of petals"」

WordNet   license wordnet

「a base hit on which the batter stops safely at first base」
bingle

WordNet   license wordnet

「not divided among or brought to bear on more than one object or objective; "judging a contest with a single eye"; "a single devotion to duty"; "undivided affection"; "gained their exclusive attention"」
undivided, exclusive

WordNet   license wordnet

「existing alone or consisting of one entity or part or aspect or individual; "upon the hill stood a single tower"; "had but a single thought which was to escape"; "a single survivor"; "a single serving"; "a single lens"; "a single thickness"」

WordNet   license wordnet

「having uniform application; "a single legal code for all"」

WordNet   license wordnet

「hit a single; "the batter singled to left field"」

PrepTutorEJDIC   license prepejdic

「《名詞の前にのみ用いて》『たった一つ』(『一人』)『の』,単独の;《否定文で》ただ一つ(一人)(もない) / 《名詞の前にのみ用いて》『一人用の』・『独身の』・《名詞の前にのみ用いて》個々の,別々の / 単一の,単式の;(花が)一重咲きの,単弁の / 《英》(切符が)片道の / 〈C〉一人,1個;独身者 / 〈C〉《話》(ホテルの部屋,船室,列車寝台などの)一人用 / 〈C〉(野球で)シングルヒット,単打 / 《複数形で》(テニスなどの)シングルスの試合,単試合 / 《英》片道切符 / 《複数形で》《話》1ドル(ポンド)札 / …‘を'1人(1個)だけ選び出す《+『out』+『名,』+『名』+『out』》 / (野球で)シングルヒットを打つ」


defect」

  [★]

  • n.
aberrantaberrantlyaberrationabnormalabnormalityabnormallyabsenceagenesisanomalousanomalouslyanomalydefectivedeficiencydeficientdeficitdeletiondeletionaldeviantdrawbackextraordinarilyextraordinaryfaultflawinadequacymissmissingmorphological defectshortcomingunusualunusuallyweakness

WordNet   license wordnet

「desert (a cause, a country or an army), often in order to join the opposing cause, country, or army; "If soldiers deserted Hitler''s army, they were shot"」
desert

WordNet   license wordnet

「an imperfection in an object or machine; "a flaw caused the crystal to shatter"; "if there are any defects you should send it back to the manufacturer"」
fault, flaw

WordNet   license wordnet

「an imperfection in a bodily system; "visual defects"; "this device permits detection of defects in the lungs"」

WordNet   license wordnet

「a failing or deficiency; "that interpretation is an unfortunate defect of our lack of information"」
shortcoming

PrepTutorEJDIC   license prepejdic

「〈C〉『欠点』,弱点,欠陥 / 〈U〉〈C〉《古》不足,欠乏 / (国・党・主義などから)離脱する,裏切って出る《+『from』+『名』》;離反して(…に)転向する《+『to』+『名』》」


sing」

  [★]

  • v.
過去sang-過去分詞sung

WordNet   license wordnet

「to make melodious sounds; "The nightingale was singing"」

WordNet   license wordnet

「deliver by singing; "Sing Christmas carols"」

WordNet   license wordnet

「produce tones with the voice; "She was singing while she was cooking"; "My brother sings very well"」

PrepTutorEJDIC   license prepejdic

「『歌う』;(…に)歌って聞かせる《+『to』(『for』)+『名』》;(楽器に合わせて)歌う《+『to』+『名』》・〈小鳥・虫などが〉『鳴く』,さえずる / 《文》(…を)詩(歌)にする,(詩(歌)を詠んで)賛美する《+『of』+『名』》・〈小川・風・弾丸・湯沸かし・耳などが〉歌うように鳴る・《米語》自白する;密告する・〈歌〉‘を'歌う・《副詞[句]を伴って》歌って…‘を'(…に)する・…‘を'唱える,詠唱する・《文》…‘を'詩(歌)にする,(詩(歌)に詠んで)賛美する・合唱の集い」


gene」

  [★] 遺伝子

WordNet   license wordnet

「(genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors"」
cistron, factor

PrepTutorEJDIC   license prepejdic

「遺伝子」

singles」

  [★]

WordNet   license wordnet

「badminton played with one person on each side」

WordNet   license wordnet

「tennis played with one person on each side」




★コメント★

[メモ入力エリア]
※コメント5000文字まで
ニックネーム:
コメント:




表示
個人用ツール


  meddic.jp

リンク
連絡