SCOPUS 정보 검색 플랫폼

Volumn 59, Issue 5, 1996, Pages 1114-1118

Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

(7) Bernasconi, Fabiana a Karagüzel, Ahmet b Celep, Figen b Keser, Ibrahim b Lüleci, Güven b Dutly, Fabrizio a Schinzel, Albert A a

a UNIVERSITY OF ZURICH (Switzerland)

b Universität Zürich ^*

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMNION FLUID; ARTICLE; CASE REPORT; CHROMOSOME 2; CHROMOSOME MARKER; CYTOGENETICS; DISOMY; EXTRACHROMOSOMAL INHERITANCE; FEMALE; HUMAN; ISOCHROMOSOME; KARYOTYPE; MALE; OLIGOHYDRAMNIOS; PHENOTYPE; PRIORITY JOURNAL;

ABORTION, SPONTANEOUS; ADULT; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; GENOMIC IMPRINTING; HUMANS; ISOCHROMOSOMES; KARYOTYPING; MOTHERS; PHENOTYPE; PREGNANCY;

EID: 0029858172 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (48)

References (5)

1
- 0025221059
- Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations
- Antonarakis SE, Adelsberger PA, Petersen MB, Binkert F, Schinzel AA (1990) Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. Am J Hum Genet 47:968-972
- (1990) Am J Hum Genet , vol.47 , pp. 968-972
- Antonarakis, S.E.¹ Adelsberger, P.A.² Petersen, M.B.³ Binkert, F.⁴ Schinzel, A.A.⁵

2
- 0002929450
- Confined placental mosaicism for trisomy 2 with fetal maternal uniparental disomy of chromosome 2
- Bernard LE, Kalousek DK, Langlois S, Barrett IJ, Hansen WF, Aylsworth AS, Smith DI, et al (1995) Confined placental mosaicism for trisomy 2 with fetal maternal uniparental disomy of chromosome 2. Am J Hum Genet Suppl 57:A51
- (1995) Am J Hum Genet Suppl , vol.57
- Bernard, L.E.¹ Kalousek, D.K.² Langlois, S.³ Barrett, I.J.⁴ Hansen, W.F.⁵ Aylsworth, A.S.⁶ Smith, D.I.⁷

3
- 0029011991
- Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
- Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, et al (1995) Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet 57:40-48
- (1995) Am J Hum Genet , vol.57 , pp. 40-48
- Christian, S.L.¹ Robinson, W.P.² Huang, B.³ Mutirangura, A.⁴ Line, M.R.⁵ Nakao, M.⁶ Surti, U.⁷

4
- 0028023046
- Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation
- Eggerding FA, Schonberg SA, Chehab FF, Norton ME, Cox VA, Epstein CJ (1994) Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet 55:253-265
- (1994) Am J Hum Genet , vol.55 , pp. 253-265
- Eggerding, F.A.¹ Schonberg, S.A.² Chehab, F.F.³ Norton, M.E.⁴ Cox, V.A.⁵ Epstein, C.J.⁶

5
- 0028231090
- The 1993-94 Généthon human genetic linkage map
- Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, et al (1994) The 1993-94 Généthon human genetic linkage map. Nat Genet 7:246-339
- (1994) Nat Genet , vol.7 , pp. 246-339
- Gyapay, G.¹ Morissette, J.² Vignal, A.³ Dib, C.⁴ Fizames, C.⁵ Millasseau, P.⁶ Marc, S.⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.