Incontinentia pigmenti nomenclature.
作者信息
Sybert V P
出版信息
Am J Hum Genet. 1994 Jul;55(1):209-11.
Abstract
摘要
相似文献
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Incontinentia pigmenti nomenclature.色素失禁症命名法。
Am J Hum Genet. 1994 Jul;55(1):209-11.
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Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.色素失禁症基因定位于Xp11带，伴有(X;10)(p11;q22)易位。
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Incontinentia pigmenti: XXY male with a family history.色素失禁症：有家族病史的XXY男性。
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Evaluation of the norrie disease gene in a family with incontinentia pigmenti.
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The confusing nosology of incontinentia pigmenti.色素失禁症令人困惑的疾病分类学。
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The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization.
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A case revisited: recent presentation of incontinentia pigmenti in association with a previously reported X; autosome translocation.病例回顾：色素失禁症近期表现并伴有先前报道的X；常染色体易位。
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Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations.
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Hypomelanosis of Ito with Multiple Congenital Anomalies.伊藤色素减退症伴多发先天性异常
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Incontinentia pigmenti.色素失禁症
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X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.一名患有伊藤色素减退症且伴有平衡的X;17易位的女性的X染色体失活分析：Xp功能二体性的证据
J Med Genet. 1996 Mar;33(3):216-20. doi: 10.1136/jmg.33.3.216.
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Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.伊藤色素减退症与X；常染色体易位：一个统一的假说。
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Genetic analyses of tattered, an X-linked dominant, developmental mouse mutation.对“破布”（一种X连锁显性发育性小鼠突变）的基因分析。
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本文引用的文献
1
Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.三个芬兰色素失禁症（IP）家族，其Xq28和Xp11处的IP基因座发生了重组。
Hum Genet. 1993 Mar;91(2):185-9. doi: 10.1007/BF00222723.
2
Two cases of X/autosome translocation in females with incontinentia pigmenti.两例色素失禁症女性患者的X/常染色体易位情况。
Hum Genet. 1985;71(3):231-4. doi: 10.1007/BF00284581.
3
4
5
6
Tentative assignment of hypomelanosis of Ito to 9q33----qter.
Hum Genet. 1987 Jan;75(1):98-9. doi: 10.1007/BF00273854.
7
Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.色素失禁症基因定位于Xp11带，伴有(X;10)(p11;q22)易位。
Clin Genet. 1987 Jul;32(1):66-9. doi: 10.1111/j.1399-0004.1987.tb03326.x.
8
Hypomelanosis of Ito.伊藤色素减退症
Pediatr Dermatol. 1990 Mar;7(1):74-6. doi: 10.1111/j.1525-1470.1990.tb01079.x.
9
Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.色素沉着异常与染色体畸变的嵌合体：与类似伊藤色素减退症的临床特征相关。
J Pediatr. 1990 Apr;116(4):581-6. doi: 10.1016/s0022-3476(05)81606-3.
10
Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints.
Am J Hum Genet. 1991 Jan;48(1):53-64.
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