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Volumn 3, Issue 6, 2012, Pages 270-273

Segmental maternal UPD6 with prenatal growth restriction

Author keywords

Failure to thrive; Intrauterine growth restriction; Uniparental disomy; UPD6

Indexed keywords

MILK PROTEIN; PROTON PUMP INHIBITOR;

EID: 84873380822     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/00034516842019     Document Type: Article
Times cited : (10)

References (19)
  • 1
    • 0018939994 scopus 로고
    • A new genetic concept: Uniparental disomy and its potential effect, isodisomy
    • Engel E: A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6: 137-143 (1980).
    • (1980) Am J Med Genet , vol.6 , pp. 137-143
    • Engel, E.1
  • 3
    • 77955759731 scopus 로고    scopus 로고
    • Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency
    • Gümü? H, Ghesquiere S, Per H, Kondolot M, Ichida K, et al: Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency. Dev Med Child Neurol 52: 868-872 (2010).
    • (2010) Dev Med Child Neurol , vol.52 , pp. 868-872
    • Gümü, H.1    Ghesquiere, S.2    Per, H.3    Kondolot, M.4    Ichida, K.5
  • 4
    • 82355181594 scopus 로고    scopus 로고
    • Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: Consanguinity, uniparental disomy, and recessive single-gene mutations
    • Kearney HM, Kearney JB, Conlin LK: Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations. Clin Lab Med 31: 595-613 (2011).
    • (2011) Clin Lab Med , vol.31 , pp. 595-613
    • Kearney, H.M.1    Kearney, J.B.2    Conlin, L.K.3
  • 5
    • 51849158675 scopus 로고    scopus 로고
    • Complex and segmental uniparental disomy updated
    • Kotzot D: Complex and segmental uniparental disomy updated. J Med Genet 45: 545-556 (2008).
    • (2008) J Med Genet , vol.45 , pp. 545-556
    • Kotzot, D.1
  • 7
    • 33845692839 scopus 로고    scopus 로고
    • Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24
    • Milenkovic T, Martic J, Robinson DO, Mackay DJ, Petrovic K, Zdravkovic D: Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. J Pediatr Endocrinol Metab 19: 1353-1357 (2006).
    • (2006) J Pediatr Endocrinol Metab , vol.19 , pp. 1353-1357
    • Milenkovic, T.1    Martic, J.2    Robinson, D.O.3    MacKay, D.J.4    Petrovic, K.5    Zdravkovic, D.6
  • 8
    • 79953321196 scopus 로고    scopus 로고
    • UPD detection using homozygosity profiling with a SNP genotyping microarray
    • Papenhausen P, Schwartz S, Risheg H, Keitges E, Gadi I, et al: UPD detection using homozygosity profiling with a SNP genotyping microarray. Am J Med Genet A 155A:757-768 (2011).
    • (2011) Am J Med Genet A , vol.155 A , pp. 757-768
    • Papenhausen, P.1    Schwartz, S.2    Risheg, H.3    Keitges, E.4    Gadi, I.5
  • 9
    • 33749482252 scopus 로고    scopus 로고
    • Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome
    • Parker EA, Hovanes K, Germak J, Porter F, Merke DP: Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome. Am J Med Genet Part A 140: 2236-2240 (2006).
    • (2006) Am J Med Genet Part A , vol.140 , pp. 2236-2240
    • Parker, E.A.1    Hovanes, K.2    Germak, J.3    Porter, F.4    Merke, D.P.5
  • 10
    • 84856111715 scopus 로고    scopus 로고
    • Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases
    • Pérez B, Nevado J, Lapunzina P, Gallego L, Pérez- Cerdá C, et al: Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. Mol Genet Metab 105: 270-271 (2012).
    • (2012) Mol Genet Metab , vol.105 , pp. 270-271
    • Pérez, B.1    Nevado, J.2    Lapunzina, P.3    Gallego, L.4    Pérez- Cerdá, C.5
  • 11
    • 77954128787 scopus 로고    scopus 로고
    • Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate
    • Salahshourifar I, Halim AS, Sulaiman WA, Zilfalil BA: Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate. Am J Med Genet Part A 152A:1818-1821 (2010).
    • (2010) Am J Med Genet Part A , vol.152 A , pp. 1818-1821
    • Salahshourifar, I.1    Halim, A.S.2    Sulaiman, W.A.3    Zilfalil, B.A.4
  • 12
    • 80053545587 scopus 로고    scopus 로고
    • Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome
    • Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, et al: Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome. Clin Genet 80: 478-483 (2011).
    • (2011) Clin Genet , vol.80 , pp. 478-483
    • Sasaki, K.1    Okamoto, N.2    Kosaki, K.3    Yorifuji, T.4    Shimokawa, O.5
  • 14
    • 82355184558 scopus 로고    scopus 로고
    • Clinical utility of single nucleotide polymorphism arrays
    • Schwartz S: Clinical utility of single nucleotide polymorphism arrays. Clin Lab Med 31: 581-594 (2011).
    • (2011) Clin Lab Med , vol.31 , pp. 581-594
    • Schwartz, S.1
  • 15
    • 33846531959 scopus 로고    scopus 로고
    • Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
    • Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, et al: Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 16: 1-14 (2007).
    • (2007) Hum Mol Genet , vol.16 , pp. 1-14
    • Simon-Sanchez, J.1    Scholz, S.2    Fung, H.C.3    Matarin, M.4    Hernandez, D.5
  • 16
    • 0032721557 scopus 로고    scopus 로고
    • Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia
    • Spiro RP, Christian SL, Ledbetter DH, New MI, Wilson RC, et al: Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia. Pediatr Res 46: 510-513 (1999).
    • (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
  • 17
    • 77952671659 scopus 로고    scopus 로고
    • Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
    • Turner CL, Mackay DM, Callaway JL, Docherty LE, Poole RL, et al: Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur J Hum Genet 18: 648-655 (2010).
    • (2010) Eur J Hum Genet , vol.18 , pp. 648-655
    • Turner, C.L.1    MacKay, D.M.2    Callaway, J.L.3    Docherty, L.E.4    Poole, R.L.5
  • 18
    • 33750470266 scopus 로고    scopus 로고
    • Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth
    • Varrault A, Gueydan C, Delalbre A, Bellmann A, Houssami S, et al: Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth. Dev Cell 11: 711-722 (2006).
    • (2006) Dev Cell , vol.11 , pp. 711-722
    • Varrault, A.1    Gueydan, C.2    Delalbre, A.3    Bellmann, A.4    Houssami, S.5
  • 19
    • 0024997309 scopus 로고
    • Uniparental isodisomy 6 associated with deficiency of the fourth component of complement
    • Welch TR, Beischel LS, Choi E, Balakrishnan K, Bishof NA: Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. J Clin Invest 86: 675-678 (1990).
    • (1990) J Clin Invest , vol.86 , pp. 675-678
    • Welch, T.R.1    Beischel, L.S.2    Choi, E.3    Balakrishnan, K.4    Bishof, N.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.