| P2093 | author name string | B. A. van Oost | |
| | H. H. Ropers | |
| | H. Traupe | |
| | D. Müller | |
| | D. C. Kalter | |
| | F. P. Cremers | |
| | D. Atherton | |
| P2860 | cites work | Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome | Q28273791 |
| | X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene | Q28291845 |
| | Easy calculations of lod scores and genetic risks on small computers | Q29616143 |
| | Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive | Q30501782 |
| | Physical mapping of the loci Gabra3, DXPas8, CamL1, and Rsvp in a region of the mouse X chromosome homologous to human Xq28 | Q33250638 |
| | Evidence for genetic heterogeneity in tuberous sclerosis | Q33593178 |
| | Five polymorphic microsatellite VNTRs on the human X chromosome. | Q34481619 |
| | The gene for incontinentia pigmenti is assigned to Xq28. | Q34677209 |
| | Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction | Q35247229 |
| | Chondrodysplasia punctata (Conradi disease). | Q37979275 |
| | Report of the committee on the genetic constitution of the X chromosome | Q38695759 |
| | X-linked dominant chondrodysplasia punctata. Review of literature and report of a case | Q40055477 |
| | Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci | Q40518362 |
| | Sex-linked chondrodysplasia punctata? | Q41050791 |
| | X-linked dominant ichthyosis | Q41443011 |
| | Fragile X genotype characterized by an unstable region of DNA. | Q43980470 |
| | Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome | Q44959699 |
| | Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene | Q45880541 |
| | Hereditary unstable DNA: a new explanation for some old genetic questions? | Q52049054 |
| | Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. | Q52091182 |
| | An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature | Q57339601 |
| | A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus | Q68071174 |
| | Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata | Q68091312 |
| | Genetic mapping of the mouse X chromosome in the region homologous to human Xq27–Xq28 | Q68300826 |
| | Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. II. Investigations into the nature and mechanism of the XO production | Q68841973 |
| | Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females: I. A preliminary report of breeding experiments | Q69311495 |
| | Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations | Q69802784 |
| | Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases | Q69953876 |
| | Normal peroxisomal function and absent skeletal manifestations in Conradi-Hünermann syndrome | Q70122624 |
| | Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata | Q71156573 |
| | Homologous genes for X-linked chondrodysplasia punctata in man and mouse | Q71229131 |
| | Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata | Q71472287 |
| | Heterogeneity of Chondrodysplasia punctata | Q71760211 |
| | Follicular atrophoderma and pseudopelade associated with chondrodystrophia calcificans congenita | Q80617341 |
| | X-linked dominant Conradi-Hünermann syndrome presenting as congenital erythroderma | Q93518060 |
| | Langerhans-cell degeneration in X-linked dominant ichthyosis. A quantitative and ultrastructural study | Q93589817 |
| | X-linked dominant chondrodysplasia punctata: a case report and family studies | Q93606071 |
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 659-665 | |
| P577 | publication date | 1992-08-01 | |
| P1433 | published in | Human Genetics | Q5937167 |
| P1476 | title | Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation | |
| P478 | volume | 89 | |