SCOPUS 정보 검색 플랫폼

Volumn 67, Issue 6, 2000, Pages 1586-1591

Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities

(10) Das, S a Lese, C M a Song, M a Jensen, J L a Wells, L A b Barnoski, B L b Roseberry, J A a Camacho, J M b Ledbetter, D H b Schnur, R E b

a UNIVERSITY OF CHICAGO (United States)

b RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME 6; CHROMOSOME MOSAICISM; CRANIOFACIAL MALFORMATION; DIABETES MELLITUS; HUMAN; INSULIN TREATMENT; MACROGLOSSIA; MALE; MITOSIS; NEWBORN; NEWBORN DISEASE; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

EID: 0033652302 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: 10.1086/316897 Document Type: Article

Times cited : (33)

References (41)

1
- 0028292032
- Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus
- (1994) J Clin Invest , vol.94 , pp. 418-421
- Abramowicz, M.J.¹ Andrien, M.² Dupont, E.³ Dorchy, H.⁴ Parma, J.⁵ Duprez, J.⁶ Ledley, F.D.⁷ Courtens, W.⁸ Vamos, E.⁹

2
- 0031440218
- Transient neonatal diabetes mellitus in a child with inv dup(6)(q22q23) of paternal origin
- (1997) Eur J Hum Genet , vol.5 , pp. 417-419
- Arthur, E.I.¹ Zlotogora, J.² Lerer, I.³ Dagan, J.⁴ Marks, K.⁵ Abeliovich, D.⁶

3
- 0030178732
- Transient neonatal diabetes mellitus and macroglossia
- (1996) J Perinatol , vol.16 , pp. 288-291
- Battin, M.¹ Yong, C.² Phang, M.³ Daaboul, J.⁴

4
- 0028920403
- Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome
- (1995) Hum Mol Genet , vol.4 , pp. 395-399
- Bischoff, F.Z.¹ Feldman, G.L.² McCaskill, C.³ Subramanian, S.⁴ Hughes, M.R.⁵ Shaffer, L.G.⁶

5
- 0030988472
- Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome
- (1997) J Med Genet , vol.34 , pp. 353-359
- Catchpoole, D.¹ Lam, W.W.² Valler, D.³ Temple, I.K.⁴ Joyce, J.A.⁵ Reik, W.⁶ Schofield, P.N.⁷ Maher, E.R.⁸

6
- 0033981939
- Refinement of the 6q chromosomal region implicated in transient neonatal diabetes
- (2000) Diabetes , vol.49 , pp. 108-113
- Cave, H.¹ Polak, M.² Drunat, S.³ Denamur, E.⁴ Czernichow, P.⁵

7
- 0031046839
- A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13 3
- (1997) Hum Mol Genet , vol.6 , pp. 147-155
- Chong, S.S.¹ Pack, S.D.² Roschke, A.V.³ Tanigami, A.⁴ Carrozzo, R.⁵ Smith, A.C.M.⁶ Dobyns, W.B.⁷ Ledbetter, D.H.⁸

8
- 0032912699
- Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus
- (1999) J Pediatr , vol.134 , pp. 42-46
- Christian, S.L.¹ Rich, B.H.² Loebl, C.³ Israel, J.⁴ Vasa, R.⁵ Kittikamron, K.⁶ Spiro, R.⁷ Rosenfield, R.⁸ Ledberter, D.H.⁹

9
- 0030037866
- Saturation multipoint linkage mapping of chromesome 6q in type 1 diabetes
- (1996) Hum Mol Genet , vol.5 , pp. 1071-1074
- Davies, J.L.¹ Cucca, F.² Goy, J.V.³ Atta, Z.A.⁴ Merriman, M.E.⁵ Wilson, A.⁶ Barnett, A.H.⁷ Bain, S.C.⁸ Todd, J.A.⁹

10
- 16944367291
- Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6
- (1997) Am J Hum Genet , vol.60 , pp. 174-187
- Delepine, M.¹ Pociot, F.² Habita, C.³ Hashimoto, L.⁴ Froguel, P.⁵ Rotter, J.⁶ Cambon-Thomsen, A.⁷ Deschamps, I.⁸ Djoulah, S.⁹ Weissenbach, J.¹⁰ Nerup, J.¹¹ Lathrop, M.¹² Julier, C.¹³

11
- 13344259999
- A comprehensive genetic map of the human genome based on 5,264 microsatellites
- (1996) Nature , vol.380 , pp. 152-154
- Dib, C.¹ Faure, S.² Fizames, C.³ Samson, D.⁴ Drouot, N.⁵ Vignal, A.⁶ Millasseau, P.⁷ Marc, S.⁸ Hazan, J.⁹ Seboun, E.¹⁰ Lathrop, M.¹¹ Gyapay, G.¹² Morissette, J.¹³ Weissenbach, J.¹⁴

12
- 9344224529
- A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
- (1996) Nat Genet , vol.13 , pp. 399-408
- Feder, J.N.¹ Gnirke, A.² Thomas, W.³ Tsuchihashi, Z.⁴ Ruddy, D.A.⁵ Basava, A.⁶ Dormishian, F.⁷

13
- 0028868936
- Transient and permanent neonatal diabetes
- (1995) Eur J Pediatr , vol.154 , pp. 944-948
- Fosel, S.¹

14
- 0023243718
- Partial trisomy 6q: Case report with necropsy findings
- (1987) J Med Genet , vol.24 , pp. 300-312
- Franchino, C.J.¹ Beneck, D.² Greco, M.A.³ Wolman, S.R.⁴

15
- 0034163575
- An imprinted locus associated with transient neonatal diabetes mellitus
- (2000) Hum Mol Genet , vol.9 , pp. 589-596
- Gardner, R.J.¹ Mackay, D.J.² Mungall, A.J.³ Polychronakos, C.⁴ Siebert, R.⁵ Shield, J.P.⁶ Temple, I.K.⁷ Robinson, D.O.⁸

16
- 0033025518
- Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (˜5.4Mb) interval on chromosome 6q
- (1999) J Med Genet , vol.36 , pp. 192-196
- Gardner, R.J.¹ Mungall, A.J.² Dunham, I.³ Barber, C.K.⁴ Shield, J.P.H.⁵ Temple, I.K.⁶ Robinson, D.O.⁷

17
- 0032421068
- Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus
- (1998) Clin Genet , vol.54 , pp. 522-525
- Gardner, R.J.¹ Robinson, D.O.² Lamont, L.³ Shield, J.P.⁴ Temple, I.K.⁵

18
- 0001777255
- The syndrome of transient diabetes
- (1962) J Pediatr , vol.61 , pp. 89-93
- Gerrard, J.W.¹ Chin, W.²

19
- 0027793754
- Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: A post-fertilization event
- (1993) Eur J Hum Genet , vol.1 , pp. 19-29
- Henry, I.¹ Puech, A.² Riesewijk, A.³ Ahnine, L.⁴ Mannens, M.⁵ Beldjord, C.⁶ Bitoun, P.⁷ Tournade, M.F.⁸ Landrieu, P.⁹ Junien, C.¹⁰

20
- 0033962830
- Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6
- (2000) Pediatrics , vol.105 , pp. 49-52
- Hermann, R.¹ Laine, A.P.² Johansson, C.³ Niederland, T.⁴ Tokarska, L.⁵ Dziatkowiak, H.⁶ Ilonen, J.⁷ Soltesz, G.⁸

21
- 0034639657
- The cell cycle control gene ZAC/PLAGL1 is imprinted: A strong candidate gene for transient neonatal diabetes
- (2000) Hum Mol Genet , vol.9 , pp. 453-460
- Kamiya, M.¹ Judson, H.² Okazaki, Y.³ Kusakabe, M.⁴ Muramatsu, M.⁵ Takada, S.⁶ Takagi, N.⁷ Arima, T.⁸ Wake, N.⁹ Kamimura, K.¹⁰ Satomura, K.¹¹ Hermann, R.¹² Bonthron, D.¹³ Hayashizaki, Y.¹⁴

22
- 0033851883
- An optimized set of human telomere clones for studying telomere integrity and architecture
- (2000) Am J Hum Genet , vol.67 , pp. 320-332
- Knight, S.J.¹ Lese, C.M.² Precht, K.S.³ Kuc, J.⁴ Ning, Y.⁵ Lucas, S.⁶ Regan, R.⁷ Brenan, M.⁸ Nicod, A.⁹ Lawrie, N.M.¹⁰ Cardy, D.L.¹¹ Nguyen, H.¹² Hudson, T.J.¹³ Riethman, H.C.¹⁴ Ledbetter, D.H.¹⁵ Flint, J.¹⁶

23
- 0029162269
- Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
- (1995) Hum Mol Genet , vol.4 , pp. 1757-1764
- Ledbetter, D.H.¹ Engel, E.²

24
- 0032475940
- Molecular genetics of Wiedemann-Beckwith syndrome
- (1998) Am J Med Genet , vol.79 , pp. 253-259
- Li, M.¹ Squire, J.A.² Weksberg, R.³

25
- 0031759339
- Uniparental disomy for chromosome 6 results in steroid 21hydroxylase deficiency: Evidence of different genetic mechanisms involved in the production of the disease
- (1998) J Med Genet , vol.35 , pp. 1014-1019
- Lopez-Gutierrez, A.U.¹ Riba, L.² Ordonez-Sanchez, M.L.³ Ramirez-Jimenez, S.⁴ Cerrillo-Hinojosa, M.⁵ Tusie-Luna, M.T.⁶

26
- 0029147665
- Affected-sib-pair mapping of a novel susceptibility gene to insulin-dependent diabetes mellitus (IDDM8) on chromosome 6q25-q27
- (1995) Am J Hum Genet , vol.57 , pp. 911-919
- Luo, D.F.¹ Bui, M.M.² Muir, A.³ Maclaren, N.K.⁴ Thomson, G.⁵ She, J.X.⁶

27
- 9244244764
- Confirmation of three susceptibility genes to insulin dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8
- (1996) Hum Mol Genet , vol.5 , pp. 693-698
- Luo, D.F.¹ Buzzetti, R.² Rotter, J.I.³ Maclaren, N.K.⁴ Raffel, L.J.⁵ Nistico, L.⁶ Giovannini, C.⁷ Pozzilli, P.⁸ Thomson, G.⁹ She, J.X.¹⁰

28
- 0034020108
- Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6
- (2000) Eur J Hum Genet , vol.8 , pp. 137-140
- Marquis, E.¹ Robert, J.J.² Benezech, C.³ Junien, C.⁴ Diatloff-Zito, C.⁵

29
- 0025992689
- Uniparental disomy as the basis for an association of rare disorders
- (1991) Am J Med Genet , vol.41 , pp. 273-274
- Nicholls, R.D.¹

30
- 0025292465
- Partial duplication of the long arm of chromosome 6: A clinically recognisable syndrome
- (1990) J Med Genet , vol.27 , pp. 523-526
- Pivnick, E.K.¹ Qumsiyeh, M.B.² Tharapel, A.T.³ Summitt, J.B.⁴ Wilroy, R.S.⁵

31
- 0028215064
- Two interesting cases of transient neonatal diabetes mellitus
- (1994) J Pediatr Endocrinol , vol.7 , pp. 47-52
- Salerno, M.¹ Gasparini, N.² Sandomenico, M.L.³ Franzese, A.⁴ Tenore, A.⁵

32
- 0028888383
- Transient neonatal diabetes and later onset diabetes: A case of inherited insulin resistance
- (1995) Arch Dis Child , vol.72 , pp. 56-57
- Shield, J.P.H.¹ Baum, J.D.²

33
- 0031394680
- Aetiopathology and genetic basis of neonatal diabetes
- (1997) Arch Dis Child Fetal Neonatal Ed , vol.76 , pp. F39-F42
- Shield, J.P.H.¹ Gardner, R.J.² Wadsworth, E.J.K.³ Whiteford, M.L.⁴ James, J.R.⁵ Robinson, D.O.⁶ Baum, J.D.⁷ Temple, I.K.⁸

34
- 0023897290
- Uniparental disomy as a mechanism for human genetic disease
- (1988) Am J Hum Genet , vol.42 , pp. 217-226
- Spence, J.E.¹ Perciaccante, R.G.² Greig, G.M.³ Willard, H.F.⁴ Ledbetter, D.H.⁵ Hejtmancik, J.F.⁶ Pollack, M.S.⁷ O'Brien, W.E.⁸ Beaudet, A.L.⁹

35
- 0032721557
- Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia
- (1999) Pediatr Res , vol.46 , pp. 510-513
- Spiro, R.P.¹ Christian, S.L.² Ledbetter, D.H.³ New, M.I.⁴ Wilson, R.C.⁵ Roizen, N.⁶ Rosenfield, R.L.⁷

36
- 85007263671
- Early onset non insulin dependent diabetes mellitus (NIDDM): A link with paternal duplication of 6q24 and transient neonatal diabetes mellitus (TNDM)
- (1999) Am J Hum Genet Suppl , vol.65 , pp. A107
- Temple, I.K.¹ Gardner, R.J.² Mackay, D.J.G.³ Robinson, D.O.⁴ Valerio, G.⁵ Franzese, A.⁶ Barber, J.C.K.⁷ Shield, J.P.H.⁸

37
- 0029794055
- Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23
- (1996) Hum Mol Genet , vol.5 , pp. 1117-1121
- Temple, I.K.¹ Gardner, R.J.² Robinson, D.O.³ Kibirige, M.S.⁴ Ferguson, A.W.⁵ Baum, J.D.⁶ Barber, J.C.K.⁷ James, R.S.⁸ Shield, J.P.H.⁹

38
- 0029243704
- An imprinted gene(s) for diabetes?
- (1995) Nat Genet , vol.9 , pp. 110-112
- Temple, I.K.¹ James, R.S.² Crolla, J.A.³ Sitch, F.L.⁴ Jacobs, P.A.⁵ Howell, W.M.⁶ Betts, P.⁷

39
- 0029991428
- Uniparental maternal disomy 6 in a renal transplant patient
- (1996) Hum Immunol , vol.45 , pp. 46-51
- Van den Berg-Loonen, E.M.¹ Savelkoul, P.² Van Hooff, H.³ Van Eede, P.⁴ Riesewijk, A.⁵ Geraedts, J.⁶

40
- 0029024038
- Long-term course of neonatal diabetes
- (1995) N Engl J Med , vol.333 , pp. 704-708
- Von Muhlendahl, K.E.¹ Herkenhoff, H.²

41
- 0031057955
- Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes
- (1997) J Med Genet , vol.34 , pp. 167-168
- Whiteford, M.L.¹ Narendra, A.² White, M.P.³ Cooke, A.⁴ Wilkinson, A.G.⁵ Robertson, K.J.⁶ Tolmie, J.L.⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.