SCOPUS 정보 검색 플랫폼

American Journal of Medical Genetics

Volumn 102, Issue 2, 2001, Pages 169-172

Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation

(4) Kotzot, Dieter a Holland, Heidrun a Keller, Eberhard b Froster, Ursula G a

a UNIVERSITY OF LEIPZIG (Germany)

b Institut fudie r Chemie (Germany)

Author keywords

Isochromosome 7p; Isochromosome 7q; Silver Russell syndrome; UPD 7

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 7P; CLINODACTYLY; FACE MALFORMATION; GENE EXPRESSION REGULATION; GENE LOCATION; GENOME IMPRINTING; GROWTH RETARDATION; HIGH ARCHED PALATE; HUMAN; ISOCHROMOSOME; MALE; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SILVER RUSSELL SYNDROME;

ADOLESCENT; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 7; FAMILY HEALTH; FEMALE; GROWTH DISORDERS; HUMANS; ISOCHROMOSOMES; KARYOTYPING; MALE;

EID: 0035426093 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.1430 Document Type: Article

Times cited : (13)

References (13)

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 Karagüzel, A.² Celep, F.³ Keser, I.⁴ Lüleci, G.⁵ Dutly, F.⁶ Schinzel, A.⁷

2
- 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
- Björck, E.J.¹ Anderlid, B.-M.² Blennow, E.³

3
- 0033613895
- Uniparental isodisomy resulting from 46,XX,i(1-p),i(1q) in a woman with short stature ptosis, micro/retrognathia, myopathy, deafness, and sterility
- (1999) Am J Med Genet , vol.82 , pp. 215-218
- Chen, P.¹ Young, R.² Mu, X.³ Nandi, K.⁴ Miao, S.⁵ Prouty, L.⁶ Ursin, S.⁷ Gonzalez, J.⁸ Yanamandra, K.⁹

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
- 0028111681
- Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea
- (1994) Am J Hum Genet , vol.55 , pp. 747-752
- Höglund, P.¹ Holmberg, C.² De la Chapelle, A.³ Kere, J.⁴

6
- 0033910406
- Isoform-specific imprinting of the human PEG1/MEST gene
- (2000) Am J Hum Genet , vol.66 , pp. 309-312
- Kosaki, K.¹ Kosaki, R.² Craigen, W.J.³ Matsuo, N.⁴

7
- 0034113750
- Maternal uniparental disomy 7-review and further delineation of the phenotype
- (2000) Eur J Pediatr , vol.159 , pp. 247-256
- Kotzot, D.¹ Balmer, D.² Baumer, A.³ Chrzanowska, K.⁴ Hamel, B.C.J.⁵ Ilyina, H.⁶ Krajewska-Walasek, M.⁷ Otten, B.J.⁸ Lurie, I.W.⁹ Otten, B.J.¹⁰ Schoenle, E.¹¹ Tariverdian, G.¹² Schinzel, A.¹³

8
- 0001463761
- An individual with maternal disomy of chromosome 4 and iso (4p), iso (4q)
- (1991) Am J Hum Genet , vol.49 , Issue.SUPPL. , pp. 1582
- Lindenbaum, R.H.¹ Woods, C.G.² Norbury, C.G.³ Povey, S.⁴ Rystecki, G.⁵

9
- 0020530573
- Whole-arm translocation between homologous chromosomes 7 in a woman with successive spontaneous abortions
- (1983) Hum Genet , vol.63 , pp. 85-86
- Niikawa, N.¹ Ishikawa, M.²

10
- 0017796785
- Successive spontaneous abortions including one with whole-arm translocation between chromosomes 2
- (1978) Hum Genet , vol.40 , pp. 221-225
- Ohama, K.¹ Kusumi, I.² Takahara, H.³ Kajii, T.⁴

11
- 0031778075
- Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia
- (1998) Am J Hum Genet , vol.62 , pp. 1551-1555
- Pan, Y.¹ McCaskill, C.D.² Thompson, K.H.³ Hicks, J.⁴ Casey, B.⁵ Shaffer, L.G.⁶ Craigen, W.J.⁷

12
- 85085844943
- 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. 462-463
- Shaffer, L.G.¹ McCaskill, C.² Egli, C.A.³ Baker, J.C.⁴ Johnston, K.M.⁵

13
- 0028827636
- Growth and symptoms in Silver-Russell syndrome: Review on the basis of 386 patients
- (1995) Eur J Pediatr , vol.154 , pp. 958-968
- Wollmann, H.A.¹ Kirchner, T.² Enders, H.³ Preece, M.A.⁴ Ranke, M.B.⁵

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.