Prenatal diagnosis of nail-patella syndrome [1]

Prenatal Diagnosis

Volumn 19, Issue 3, 1999, Pages 287-288

  McIntosh, Iain ^a   Clough, Mark V ^a   Gak, Eva ^b   Frydman, Moshe ^b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; DNA DETERMINATION; FERTILIZATION IN VITRO; FETUS; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; GENE LOCUS; HUMAN; LETTER; NAIL PATELLA SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; THIRD TRIMESTER PREGNANCY;

FEMALE; HUMANS; MALE; NAIL-PATELLA SYNDROME; PEDIGREE; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 0033048481     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199903)19:3<287::AID-PD526>3.0.CO;2-P     Document Type: Letter

References (9)

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2. Dreyer, S.D., Zhou, G., Baldini, A., Winterpacht, A., Zabel, B., Cole, W., Johnson, R.L., Lee, B. (1998). Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nature Genet., 19, 47-50.
3. Feingold, M., Itzchak, Y., Goodman, R.D. (1998). Ultrasound prenatal diagnosis of the nail patella syndrome. Prenat. Diagn., 18, 854-856.
4. Jones, K.L. (1988). Smith's Recognizable Patterns of Human Malformation, 4th edn., Philadelphia: Saunders, 386-387.
5. Looij, B.R. Jr. te Slaa, R.L., Hogewind, B.L., van de Kamp, J.J. (1988). Genetic counseling in hereditary osteoonychodysplasia (HOOD), nail-patella syndrome) with nephropathy. J. Med. Genet., 25, 682-686.
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7. McIntosh, I., Dreyer, S.D., Clough, M.V., Dunston, J.A., Eyaid, W.M., Roig, C.M., Montgomery, T., Ala-Mello, S., Kaitila, I., Winterpacht, A., Zabel, B., Frydman, M., Cole, W.G., Francomano, C.A., Lee, B. (1998). Mutation analysis of LMX1B gene in nail patella syndrome patients. Am. J. Hum. Genet., 63, 1651-1658.
8. Rizzo, R., Pavone, L., Micali, G., Hall, J.G. (1993). Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome, Clin. Genet., 44, 1-7.
9. Vollrath, D., Jaramillo-Babb, V.L., Clough, M.V., McIntosh, I., Scott, K.M., Lichter, P.R., Richards, J.E. (1988). Loss of function mutations in the LIM homeodomain gene, LMX1B, in nail patella syndrome. Hum. Mol. Genet., 7, 1091-1098.