about
Screening of functional and positional candidate genes in families with common variable immunodeficiencyA novel nemaline myopathy in the Amish caused by a mutation in troponin T1A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosaIdentification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic IsolatesThe Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtypeMutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucomaAn immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.Identification of a new candidate locus for uric acid nephrolithiasis.Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophyGenetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cMPaget disease of bone: mapping of two loci at 5q35-qter and 5q31.Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing proteinShwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotypeA gene for universal congenital alopecia maps to chromosome 8p21-22Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region.Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics StudyCongenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13qAge-severity relationships in families linked to FCD2 with retroillumination photographyA new susceptibility locus for autosomal dominant pancreatic cancer maps to chromosome 4q32-34Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humansCC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosaA homozygous CARD9 mutation in a family with susceptibility to fungal infectionsA gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2Mapping of a gene for long QT syndrome to chromosome 4q25-27Identification of a polymorphic gene, BCL2A1, encoding two novel hematopoietic lineage-specific minor histocompatibility antigensLinkage of a gene for macular corneal dystrophy to chromosome 16An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3pMap refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosaThe gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor geneIdentification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24
P2860
Q21263125-C2637B3E-F4BB-4EE3-9776-CEE14B281AC1Q24290127-1103C607-267B-4F3B-8A08-11C7D8FCB1E4Q24297596-A6F4CFA6-A622-4F10-8161-DB7A27360407Q24323217-DA1B3CAF-74B2-41D4-BEDE-CF19656DC2F5Q24531747-D8BA9AA8-30F6-4B32-A688-B2E47EB6DF27Q24532011-13C64ACE-5668-4162-A568-684EA092D24EQ24533389-7AD8D86C-F556-4BEF-86BD-0F321B7A0E6DQ24533463-B7797EC7-8F5D-4545-9ADE-39812C364D5BQ24533603-063379D2-A67F-4FEA-9B2A-A9BAE84ECDC0Q24533713-3119E7AB-54E7-46AE-AC83-1E065FDF9D47Q24534276-56DEA928-44FA-4756-A49D-EEA1CB661B9FQ24534402-AAE68AC7-55C5-490D-B2DE-30A21C7C64A7Q24535825-7D2280FA-636D-4258-BAE8-34CB99D1332EQ24536172-34F2C66C-4482-4CEC-B91F-93D3675E7B6AQ24536337-C92C7234-0673-4F2F-8794-4ECDC577DDC7Q24538685-A7781EA1-63E3-4212-A084-CC0F9DDC9BFDQ24538720-093B4594-FEC8-4FC5-A9E3-BAB85D4B2ED4Q24538831-E609F3D0-6276-4107-8656-E603B7EAE78BQ24538950-3B013137-3C69-4E6C-9E0B-4BDB68F8795FQ24539072-CB9482D9-7616-400B-9108-883A5F1F1B00Q24539083-923E7F9F-98F5-45D7-849E-1750F5F83527Q24539105-05AF0503-BB6D-45A0-AA89-9C8E13768342Q24539154-EAFA1CE0-E2CC-40A1-B2D3-0E1A80649940Q24539175-C06E5A94-CC80-4EF3-BB5C-A443779B5F5CQ24540047-8D695885-0CD6-4597-91DA-98374D1F188DQ24540161-D4A9AA00-964A-48AC-B724-AC2863D615F7Q24546702-5318C15D-6727-4E74-8111-BFE39A4CF5BBQ24601547-1A0E6C9A-33C4-4CAB-8FEC-54AEEB273134Q24613943-08D88023-3B69-457C-B637-445483559CE3Q24651459-E0109479-D0EE-4CC0-BE7D-CC51412F3D71Q24655494-2B2CCCA8-B6AA-474D-A078-4372790C0387Q24658090-A1FD3E4D-1335-4E21-8DCB-705C9853AEA5Q24671618-24E28B47-B486-46DA-839C-B5F0AEA05E37Q24672105-37ECFCE2-0E6B-4DF1-8D7C-C2B5D0F59E05Q24673417-08B15C55-74A7-4DC1-94A4-FCA08139ABFDQ24676075-D544A204-5C6E-4D22-8C5F-A203FFD2889AQ24676151-72AE7869-3CCE-4E23-910A-9AF00E621594Q24676387-AEB9D1A7-E678-4629-8BD0-15B8EE04F450Q24677660-97902482-64EE-40A8-8F2D-737C5159D7D5Q24678247-746AB2A8-14B2-461E-AB42-2446673734CB
P2860
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年学术文章
@wuu
1994年学术文章
@zh
1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
@zh-sg
1994年學術文章
@yue
1994年學術文章
@zh-hant
name
Avoiding recomputation in linkage analysis.
@en
Avoiding recomputation in linkage analysis.
@nl
type
label
Avoiding recomputation in linkage analysis.
@en
Avoiding recomputation in linkage analysis.
@nl
prefLabel
Avoiding recomputation in linkage analysis.
@en
Avoiding recomputation in linkage analysis.
@nl
P2093
P356
P1433
P1476
Avoiding recomputation in linkage analysis.
@en
P2093
A A Schäffer
R W Cottingham
P304
P356
10.1159/000154222
P577
1994-07-01T00:00:00Z