메뉴 건너뛰기




Volumn 140, Issue 11, 2006, Pages 1241-1244

The neonatal phenotype of Prader-Willi syndrome [2]

Author keywords

[No Author keywords available]

Indexed keywords

ACROCYANOSIS; ARACHNODACTYLY; BRADYCARDIA; CHROMOSOME 15Q; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; EAR DYSPLASIA; HUMAN; HYPERPHAGIA; LETTER; MICROGNATHIA; MUSCLE ATONIA; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; OBESITY; OLIGOPHRENIA; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SHORT STATURE; TENDON REFLEX;

EID: 33744804330     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31223     Document Type: Letter
Times cited : (28)

References (19)
  • 1
    • 0025165774 scopus 로고
    • Physical features of Prader-Willi syndrome in neonates
    • Aughton DJ, Cassidy SB. 1990. Physical features of Prader-Willi syndrome in neonates. Am J Dis Child 144:1251-1254.
    • (1990) Am J Dis Child , vol.144 , pp. 1251-1254
    • Aughton, D.J.1    Cassidy, S.B.2
  • 2
    • 0024516927 scopus 로고
    • Perinatal and first year follow-up of patients with Prader-Willi syndrome: Normal size of hands and feet
    • Chitayat D, Davis EB, McGillivray BC, Hayden MR, Hall JG. 1989. Perinatal and first year follow-up of patients with Prader-Willi syndrome: Normal size of hands and feet. Clin Genet 35:161-166.
    • (1989) Clin Genet , vol.35 , pp. 161-166
    • Chitayat, D.1    Davis, E.B.2    McGillivray, B.C.3    Hayden, M.R.4    Hall, J.G.5
  • 3
    • 8644277125 scopus 로고    scopus 로고
    • Distal arthrogryposis and neonatal hypotonia: An unusual presentation of Prader-Willi syndrome
    • Denizot S, Boscher C, Le Vaillant C, Rozé JC, Gras Le Guen C. 2004. Distal arthrogryposis and neonatal hypotonia: An unusual presentation of Prader-Willi syndrome. J Perinatol 24:733-734.
    • (2004) J Perinatol , vol.24 , pp. 733-734
    • Denizot, S.1    Boscher, C.2    Le Vaillant, C.3    Rozé, J.C.4    Gras Le Guen, C.5
  • 4
    • 0023637460 scopus 로고
    • Neonatal diagnosis of Prader-Willi syndrome and its implications
    • Greenberg F, Elder FFB, Ledbetter DH. 1987. Neonatal diagnosis of Prader-Willi syndrome and its implications. Am J Med Genet 28:845-856.
    • (1987) Am J Med Genet , vol.28 , pp. 845-856
    • Greenberg, F.1    Elder, F.F.B.2    Ledbetter, D.H.3
  • 5
    • 0030924840 scopus 로고    scopus 로고
    • Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15
    • Gunay-Aygun M, Heeger S, Schwartz S, Cassidy SB. 1997. Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15. Am J Med Genet 71:106-110.
    • (1997) Am J Med Genet , vol.71 , pp. 106-110
    • Gunay-Aygun, M.1    Heeger, S.2    Schwartz, S.3    Cassidy, S.B.4
  • 8
    • 0142185334 scopus 로고    scopus 로고
    • Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: Confirmation by cell cloning and identification of candidate downstream genes
    • Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpaß L, Claussen U, Michel S, Lieh C, Gillessen-Kaesbach G, Buiting K. 2003. Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: Confirmation by cell cloning and identification of candidate downstream genes. Hum Mol Genet 12:2723-2732.
    • (2003) Hum Mol Genet , vol.12 , pp. 2723-2732
    • Horsthemke, B.1    Nazlican, H.2    Hüsing, J.3    Klein-Hitpaß, L.4    Claussen, U.5    Michel, S.6    Lieh, C.7    Gillessen-Kaesbach, G.8    Buiting, K.9
  • 9
    • 2942746722 scopus 로고    scopus 로고
    • Prader-Willi syndrome resulting from an unbalanced translocation: Characterization by array comparative genomic hybridization
    • Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA. 2004. Prader-Willi syndrome resulting from an unbalanced translocation: Characterization by array comparative genomic hybridization. Clin Genet 65: 477-482.
    • (2004) Clin Genet , vol.65 , pp. 477-482
    • Klein, O.D.1    Cotter, P.D.2    Albertson, D.G.3    Pinkel, D.4    Tidyman, W.E.5    Moore, M.W.6    Rauen, K.A.7
  • 10
    • 0034828044 scopus 로고    scopus 로고
    • Neonatal subdural and extradural haemorrhage in Prader-Willi syndrome
    • Klinge L, Scott RC, de Sousa C. 2001. Neonatal subdural and extradural haemorrhage in Prader-Willi syndrome. Neuropediatrics 32:221-222.
    • (2001) Neuropediatrics , vol.32 , pp. 221-222
    • Klinge, L.1    Scott, R.C.2    De Sousa, C.3
  • 12
    • 0032988452 scopus 로고    scopus 로고
    • The neonatal presentation of Prader-Willi syndrome revisited
    • Miller SP, Riley P, Shevell MI. 1999. The neonatal presentation of Prader-Willi syndrome revisited. J Pediatr 134:226-228.
    • (1999) J Pediatr , vol.134 , pp. 226-228
    • Miller, S.P.1    Riley, P.2    Shevell, M.I.3
  • 13
    • 0000927260 scopus 로고
    • Ein syndrom von adipositas, kleinwuchs, kryptorchismus und Oligophrenie nach myotonieartigem Zustand im Neugeborenalter
    • Prader A, Labhart A, Willi H. 1956. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myotonieartigem Zustand im Neugeborenalter. Schweiz Med Wschr 86:1260-1261.
    • (1956) Schweiz Med Wschr , vol.86 , pp. 1260-1261
    • Prader, A.1    Labhart, A.2    Willi, H.3
  • 14
    • 0019140835 scopus 로고
    • Prader-Willi syndrome: Neonatal presentation and later development
    • Stephenson JBP. 1980. Prader-Willi syndrome: Neonatal presentation and later development. Dev Med Child Neurol 22:792-799.
    • (1980) Dev Med Child Neurol , vol.22 , pp. 792-799
    • Stephenson, J.B.P.1
  • 16
    • 0141991070 scopus 로고    scopus 로고
    • Neonatal hypotonia: Don't forget the Prader-Willi syndrome
    • Trifirò G, Livieri C, Bosio L, Gargantini L, Corrias A, Pozzan G, Crino A; Genetic Obesity Study Group of the Italian Society of Paediatric Endocrinology and Diabetology. 2003. Neonatal hypotonia: Don't forget the Prader-Willi syndrome. Acta Paediatr 92:1085-1089.
    • (2003) Acta Paediatr , vol.92 , pp. 1085-1089
    • Trifirò, G.1    Livieri, C.2    Bosio, L.3    Gargantini, L.4    Corrias, A.5    Pozzan, G.6    Crino, A.7
  • 17
    • 0024580666 scopus 로고
    • Neonatal respiratory depression and delay in diagnosis in Prader-Willi syndrome
    • Wharton RH, Bresnan MJ. 1989. Neonatal respiratory depression and delay in diagnosis in Prader-Willi syndrome. Dev Med Child Neurol 31:231-236.
    • (1989) Dev Med Child Neurol , vol.31 , pp. 231-236
    • Wharton, R.H.1    Bresnan, M.J.2
  • 18
    • 0028120933 scopus 로고
    • Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome
    • Williams MS, Rooney BL, Williams J, Josephson K, Pauli R. 1994. Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome. Am J Med Genet 49:302-307.
    • (1994) Am J Med Genet , vol.49 , pp. 302-307
    • Williams, M.S.1    Rooney, B.L.2    Williams, J.3    Josephson, K.4    Pauli, R.5
  • 19
    • 0037183516 scopus 로고    scopus 로고
    • Abnormal cortical development shown by 3D MRI in Prader-Willi syndrome
    • Yoshii A, Krishnamoorthy KS, Grant E. 2002. Abnormal cortical development shown by 3D MRI in Prader-Willi syndrome. Neurology 59:644-645.
    • (2002) Neurology , vol.59 , pp. 644-645
    • Yoshii, A.1    Krishnamoorthy, K.S.2    Grant, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.