Pages that link to "Q52091182"
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The following pages link to Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome (Q52091182):
Displaying 50 items.
- A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy (Q24314592) (← links)
- The MIC2 gene product: epitope mapping and structural prediction analysis define an integral membrane protein (Q24339470) (← links)
- Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism (Q24514987) (← links)
- Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). (Q24518185) (← links)
- Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata (Q24538789) (← links)
- Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome (Q24601013) (← links)
- Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis (Q24605693) (← links)
- Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis (Q24631016) (← links)
- Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases (Q24676605) (← links)
- An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry (Q24678018) (← links)
- SHOX gene in Leri-Weill syndrome and in idiopathic short stature (Q28206413) (← links)
- Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome (Q28237330) (← links)
- 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) (← links)
- Mapping dysmorphic syndromes with the aid of the human/mouse homology map (Q30501668) (← links)
- Long-range restriction map of the terminal part of the short arm of the human X chromosome (Q33579172) (← links)
- Sex reversal in a child with a 46,X,Yp karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation (Q33593904) (← links)
- Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region (Q33863192) (← links)
- Chromosomal localisation of a pseudoautosomal growth gene(s) (Q33863421) (← links)
- Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. (Q33596996) (← links)
- The human Y chromosome (Q33672139) (← links)
- Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation (Q33677973) (← links)
- SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis (Q33767043) (← links)
- Biochemical analysis of an antigen produced by both human sex chromosomes (Q33931608) (← links)
- X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biology (Q33936426) (← links)
- SHOX haploinsufficiency and overdosage: impact of gonadal function status. (Q34116408) (← links)
- Homologous expressed genes in the human sex chromosome pairing region (Q34200559) (← links)
- Molecular studies of deletions at the human steroid sulfatase locus (Q34316988) (← links)
- X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. (Q34450526) (← links)
- Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism (Q34522720) (← links)
- Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form (Q34528111) (← links)
- A multipoint linkage map of the distal short arm of the human X chromosome (Q35197144) (← links)
- Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome (Q35200261) (← links)
- Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error (Q35200911) (← links)
- Fine mapping of the distal short arm of the human X chromosome using X/Y translocations. (Q35200969) (← links)
- Comparative map for mice and humans (Q35364327) (← links)
- Cloning an expressed gene shared by the human sex chromosomes (Q35584346) (← links)
- Molecular Genetics of X-Linked Hearing Impairment (Q36532664) (← links)
- Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes (Q37407692) (← links)
- Recognition and diagnosis of neuro-ichthyotic syndromes (Q37994102) (← links)
- Punctate epiphyses: a radiological sign not a disease (Q40496833) (← links)
- Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features (Q40550174) (← links)
- Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. (Q40551126) (← links)
- Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation (Q41090403) (← links)
- The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis (Q41234841) (← links)
- A high resolution deletion map of human chromosome Xp22. (Q41544332) (← links)
- Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency (Q41965319) (← links)
- Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction (Q44018331) (← links)
- Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy (Q44124836) (← links)
- Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height (Q47391309) (← links)
- Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3. (Q51985004) (← links)