Amish Albinism: a Distinctive Autosomal Recessive Phenotype

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1970 Sep 1

PMID 5516239

Citations 8

Authors

W E Nance

C E Jackson

C J WITKOP Jr

Affiliations

Soon will be listed here.

Citing Articles

Oculocutaneous albinism.

Biswas S, Lloyd I Arch Dis Child. 1999; 80(6):565-9.

PMID: 10332009 PMC: 1717945. DOI: 10.1136/adc.80.6.565.

Albinism: modern molecular diagnosis.

Carden S, Boissy R, Schoettker P, Good W Br J Ophthalmol. 1998; 82(2):189-95.

PMID: 9613388 PMC: 1722467. DOI: 10.1136/bjo.82.2.189.

1992 American Society of Human Genetics presidential address: back to the future.

Nance W Am J Hum Genet. 1993; 53(1):6-15.

PMID: 8317499 PMC: 1682233.

Concurrence of anorexia nervosa and yellow mutant albinism.

Kelly J, Rohde J, WITKOP Jr C, Johannes A J Med Genet. 1980; 17(1):68-71.

PMID: 7365767 PMC: 1048495. DOI: 10.1136/jmg.17.1.68.

Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism.

Hu F, Hanifin J, Prescott G, Tongue A Am J Hum Genet. 1980; 32(3):387-95.

PMID: 6770679 PMC: 1686057.

References

Brdicka R . Evidence for linkage between haemoglobin and chromogen loci. Folia Biol (Praha). 1966; 12(4):305-6. View

Cross H, MCKUSICK V, Breen W . A new oculocerebral syndrome with hypopigmentation. J Pediatr. 1967; 70(3):398-406. DOI: 10.1016/s0022-3476(67)80137-9. View

Jackson C, Strehler D . Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. Pediatrics. 1968; 41(2):495-502. View

Jackson C, SYMON W, PRUDEN E, Kaehr I, Mann J . Consanguinity and blood group distribution in an Amish Isolate. Am J Hum Genet. 1968; 20(6):522-7. PMC: 1706380. View

WITKOP Jr C, Nance W, Rawls R, White J . Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity. Am J Hum Genet. 1970; 22(1):55-74. PMC: 1706512. View

Ottolenghi-Nightingale E . Induction of melanin synthesis in albino mouse skin by DNA from pigmented mice. Proc Natl Acad Sci U S A. 1969; 64(1):184-9. PMC: 286145. DOI: 10.1073/pnas.64.1.184. View

Nance W, Conneally M, Kang K, Reed T, Schroder J, Rose S . Genetic linkage analysis of human hemoglobin variants. Am J Hum Genet. 1970; 22(4):453-9. PMC: 1706597. View

Trevor-Roper P . Marriage of two complete albinos with normally pigmented offspring. Br J Ophthalmol. 1952; 36(2):107-8. PMC: 1323878. DOI: 10.1136/bjo.36.2.107. View

STEIN W, Moore S . The free amino acids of human blood plasma. J Biol Chem. 1954; 211(2):915-26. View

10.

KUGELMAN T, VAN SCOTT E . Tyrosinase activity in melanocytes of human albinos. J Invest Dermatol. 1961; 37:73-6. View

11.

Popp R . Studies on the mouse hemoglobin loci. II. Position of the hemoglobin locus with respect to albinism and shaker-1 loci. J Hered. 1962; 53:73-80. DOI: 10.1093/oxfordjournals.jhered.a107127. View

12.

MCKUSICK V, Hostetler J, Egeland J . GENETIC STUDIES OF THE AMISH, BACKGROUND AND POTENTIALITIES. Bull Johns Hopkins Hosp. 1964; 115:203-22. View

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Morton N . Sequential tests for the detection of linkage. Am J Hum Genet. 1955; 7(3):277-318. PMC: 1716611. View