Schinzel A - Search Results

1

Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4.

Murray JC, Bennett SR, Kwitek AE, Small KW, Schinzel A, Alward WL, Weber JL, Bell GI, Buetow KH. Murray JC, et al. Among authors: schinzel a. Nat Genet. 1992 Sep;2(1):46-9. doi: 10.1038/ng0992-46. Nat Genet. 1992. PMID: 1303248

2

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.

Bamshad M, Lin RC, Law DJ, Watkins WC, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Schinzel A, Seidman JG, Seidman CE, Jorde LB. Bamshad M, et al. Among authors: schinzel a. Nat Genet. 1997 Jul;16(3):311-5. doi: 10.1038/ng0797-311. Nat Genet. 1997. PMID: 9207801

3

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

Petersen MB, Schinzel AA, Binkert F, Tranebjaerg L, Mikkelsen M, Collins FA, Economou EP, Antonarakis SE. Petersen MB, et al. Among authors: schinzel aa. Am J Hum Genet. 1991 Jan;48(1):65-71. Am J Hum Genet. 1991. PMID: 1824668 Free PMC article.

4

Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age.

Antonarakis SE, Avramopoulos D, Blouin JL, Talbot CC Jr, Schinzel AA. Antonarakis SE, et al. Among authors: schinzel aa. Nat Genet. 1993 Feb;3(2):146-50. doi: 10.1038/ng0293-146. Nat Genet. 1993. PMID: 8499948

5

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.

Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, et al. Muenke M, et al. Among authors: schinzel a. Nat Genet. 1994 Nov;8(3):269-74. doi: 10.1038/ng1194-269. Nat Genet. 1994. PMID: 7874169

6

A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.

Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M, Parent P, Plauchu H, Serville F, Schinzel A, Weissenbach J, et al. Bonnet D, et al. Among authors: schinzel a. Nat Genet. 1994 Apr;6(4):405-8. doi: 10.1038/ng0494-405. Nat Genet. 1994. PMID: 8054983

7

Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14.

Brown DM, Graemiger RA, Hergersberg M, Schinzel A, Messmer EP, Niemeyer G, Schneeberger SA, Streb LM, Taylor CM, Kimura AE, et al. Brown DM, et al. Among authors: schinzel a. Arch Ophthalmol. 1995 May;113(5):671-5. doi: 10.1001/archopht.1995.01100050139045. Arch Ophthalmol. 1995. PMID: 7748141

8

The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms.

Antonarakis SE, Petersen MB, McInnis MG, Adelsberger PA, Schinzel AA, Binkert F, Pangalos C, Raoul O, Slaugenhaupt SA, Hafez M, et al. Antonarakis SE, et al. Among authors: schinzel aa. Am J Hum Genet. 1992 Mar;50(3):544-50. Am J Hum Genet. 1992. PMID: 1347192 Free PMC article.

9

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.

Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner RJ, Lin RC, Seidman CE, Seidman JG, Wallerstein R, Moran E, Sutphen R, Campbell CE, Jorde LB. Bamshad M, et al. Among authors: schinzel a. Am J Hum Genet. 1999 Jun;64(6):1550-62. doi: 10.1086/302417. Am J Hum Genet. 1999. PMID: 10330342 Free PMC article.

10

Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal.

Petersen MB, Adelsberger PA, Schinzel AA, Binkert F, Hinkel GK, Antonarakis SE. Petersen MB, et al. Among authors: schinzel aa. Am J Hum Genet. 1991 Sep;49(3):529-36. Am J Hum Genet. 1991. PMID: 1831959 Free PMC article.

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