| 1 | PBT1
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| Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8.4).
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| Fujimoto A, Reddy KS, Spinks R.
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| Am J Med Genet 75(1):78-81. 1998
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| 2 | KIT, PBT1
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| Piebaldism with deafness : molecular evidence for an expanded syndrome.
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| Spritz RA, Beighton P.
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| Am J Med Genet 75(1):101-3. 1998
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| 3 | PBT1
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| Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.
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| Schinzel A, Braegger CP, Brecevic L, Dutly F, Binkert F.
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| J Med Genet 34(8):692-5. 1997
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| 4 | KIT, PBT1
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| Mutations in the ligand-binding domain of the kit receptor : an uncommon site in human piebaldism.
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| Fleischman RA, et al.
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| J Invest Dermatol 107 : 703-706. 1996
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| 5 | GNRHR, PBT1, D4S392, D4S409
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| Subregional mapping of the human gonadotropin-releasing hormone receptor (GnRH-R) gene to 4q between the markers D4S392 and D4S409.
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| Kottler ML, et al.
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| Hum Genet 96 : 477-480. 1995
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| 6 | PBT1, KIT
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| A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism.
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| Riva P, et al.
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| Hum Mutat 6 : 343-345. 1995
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| 7 | PBT1, KIT
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| Human piebaldism : relationship between phenotype and site of kit gene mutation.
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| Ward KA, et al.
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| Br J Dermatol 132 : 929-935. 1995
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| 8 | PBT1, KIT
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| Novel mutations and deletions of the KIT (Steel Factor Receptor) gene inhuman piebaldism.
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| Ezoe K, et al.
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| Am J Hum Genet 56 : 58-66. 1995
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| 9 | PBT1, KIT
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| A novel mutation in the c-KIT protooncogene in a family with piebaldism. (abstr)
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| Larizza L, et al.
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| Am J Hum Genet 55 : A228. 1994
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| 10 | PBT1, KIT
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| A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism.
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| Spritz RA, et al.
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| Hum Mol Genet 2 : 1499-1500. 1993
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| 11 | PBT1
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| Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.
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| Spritz RA, et al.
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| Am J Hum Genet 50 : 261-269. 1992
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| 12 | PBT1
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| Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.
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| Fleischman RA.
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| J Clin Invest 89 : 1713-1717. 1992
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| 13 | PBT1
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| Deletion of the KIT and PDGFRA genes in a patient with piebaldism.
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| Spritz RA, et al.
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| Am J Med Genet 44 : 492-495. 1992
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| 14 | KIT, PBT1
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| Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.
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| Spritz RA, et al.
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| Am J Hum Genet 51 : 1058-1065. 1992
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| 15 | PBT1
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| Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.
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| Giebel LB, et al.
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| Proc Natl Acad Sci U S A 88 : 8696-8699. 1991
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| 16 | PBT1
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| Deletion of the c-kit protooncogene in the human developmental defect piebald trait.
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| Fleischman RA, et al.
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| Proc Natl Acad Sci U S A 88 : 10885-10889. 1991
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| 17 | PBT1
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| The dominant W42 spotting phenotype results from a missense mutation in the c-kit receptor kinase.
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| Tan JC, et al.
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| Science 247 : 209-212. 1990
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| 18 | PBT1, GC
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| Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system : probable reduced gene dosage effect and partial piebald trait.
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| Yamamoto Y, et al.
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| Am J Med Genet 32 : 520-523. 1989
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| 19 | PBT1
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| Tentative assignment of piebald trait gene to chromosome band 4q12.
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| Hoo JJ, et al.
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| Hum Genet 73 : 230-231. 1986
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| 20 | PBT1
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| Piebald trait in a retarded child with interstitial deletion of chromosome 4.
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| Lacassie Y, et al.
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| Am J Hum Genet 29 : 641-642. 1977
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| 21 | PBT1
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| Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.
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| Funderburk SJ, et al.
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| Am J Hum Genet 26 : 715-722. 1974
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