SCOPUS 정보 검색 플랫폼

Volumn 38, Issue 3, 2001, Pages 214-215

Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q) [12]

(6) Albrecht, B a Mergenthaler, S a Eggermann, K a Zerres, K a Passarge, E a Eggermann, T a

a RWTH AACHEN UNIVERSITY (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CHROMOSOME 2; CHROMOSOME 2P; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; ISOCHROMOSOME; LETTER; PHENOTYPE; PRIORITY JOURNAL; SPONTANEOUS ABORTION; TANDEM REPEAT; UNIPARENTAL DISOMY;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 2; CYTOGENETIC ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; ISOCHROMOSOMES; KARYOTYPING; MICROSATELLITE REPEATS; PHENOTYPE;

EID: 0035085635 PISSN: 00222593 EISSN: None Source Type: Journal
DOI: None Document Type: Letter

Times cited : (18)

References (10)

1
- 0029858172
- Normal phenotype with maternal isodisomy in a female with two isochromosomes i(2p) and i(2q)
- (1996) Am J Hum Genet , vol.59 , pp. 1114-1118
- Bernasconi, F.¹ Kargüzel, A.² Celep, F.³ Keser, I.⁴ Lüleci, G.⁵ Dutly, F.⁶ Schinzel, A.A.⁷

2
- 0030856047
- Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes?
- (1997) Am J Hum Genet , vol.61 , pp. 461-462
- Shaffer, L.G.¹ McCaskill, C.² Egli, C.A.³ Baker, J.C.⁴ Johston, K.M.⁵

3
- 0001463761
- An individual with maternal disomy of chromosome 4 and iso(4p), iso(4q)
- (1991) Am J Hum Genet Suppl , vol.49 , pp. 1582
- Lindenbaum, R.H.¹ Woods, C.G.² Norbury, C.G.³ Pevey, S.⁴ Rsiecki, G.⁵

4
- 0028023046
- Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation
- (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
- 0344131427
- Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q)
- (1999) Am J Med Genet , vol.87 , pp. 49-52
- Börck, E.J.¹ Anderlid, B.M.² Blennow, E.³

6
- 0029077269
- Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture
- (1995) Am J Med Genet , vol.58 , pp. 147-151
- Harrison, K.¹ Eisenger, K.² Anyane-Yeboa, K.³ Brown, S.⁴

7
- 0029797559
- Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation
- (1996) Prenat Diagn , vol.16 , pp. 958-962
- Webb, A.L.¹ Sturgiss, S.² Warwicker, P.³ Robson, S.C.⁴ Goodship, J.A.⁵ Wolstenholme, J.⁶

8
- 0030950624
- Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios
- (1997) Prenat Diagn , vol.17 , pp. 443-450
- Hansen, W.F.¹ Bernard, L.E.² Langlois, S.³ Rao, K.W.⁴ Chescheir, N.C.⁵ Aylsworth, A.S.⁶ Smith, D.I.⁷ Robinson, W.P.⁸ Barrett, R.J.⁹ Kalousek, D.K.¹⁰

9
- 0034608286
- Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity
- (2000) Am J Med Genet , vol.92 , pp. 260-263
- Heide, E.¹ Heide, K.G.² Rodewald, A.³

10
- 0028231090
- The 1993-94 Généthon human genetic linkage map
- (1994) Nat Genet , vol.7 , pp. 246-339
- Gyapay, G.¹ Morissette, J.² Vignal, A.³ Dib, C.⁴ Fizames, C.⁵ Millaseau, P.⁶ Marc, S.⁷ Bernardi, G.⁸ Lathrop, M.⁹ Weissenbach, J.¹⁰

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.