메뉴 건너뛰기




Volumn 81, Issue 4, 2007, Pages 866-868

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (Thrombocytopenia-Absent-Radius) syndrome-associated microdeletion 1q21.1 [3]

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 1Q; CHROMOSOME DELETION; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINITY; GENE NUMBER; GENETIC COUNSELING; GENOME ANALYSIS; GESTATIONAL AGE; HUMAN; LETTER; MALFORMATION SYNDROME; PHOCOMELIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; THROMBOCYTE COUNT; THROMBOCYTOPENIA ABSENT RADIUS; ULTRASOUND;

EID: 35349007918     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/521338     Document Type: Letter
Times cited : (13)

References (25)
  • 1
    • 85030575087 scopus 로고    scopus 로고
    • DECIPHER
    • DECIPHER, http://www.sanger.ac.uk/PostGenomics/decipher/
  • 2
    • 85030589305 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/ Omim/ (for 17q21.3 microdeletion syndrome, CHARGE syndrome, Pitt-Hopkins syndrome, Crohn disease, TAR syndrome, Holt-Oram syndrome, and Roberts syndrome)
    • Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/ Omim/ (for 17q21.3 microdeletion syndrome, CHARGE syndrome, Pitt-Hopkins syndrome, Crohn disease, TAR syndrome, Holt-Oram syndrome, and Roberts syndrome)
  • 3
    • 25844490588 scopus 로고    scopus 로고
    • The new cytogenetics: Blurring the boundaries with molecular biology
    • Speicher MR, Carter NP (2005) The new cytogenetics: blurring the boundaries with molecular biology. Nat Rev Genet 6:782-792
    • (2005) Nat Rev Genet , vol.6 , pp. 782-792
    • Speicher, M.R.1    Carter, N.P.2
  • 8
    • 34247560106 scopus 로고    scopus 로고
    • Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
    • Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, et al (2007) Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet 80:988-993
    • (2007) Am J Hum Genet , vol.80 , pp. 988-993
    • Amiel, J.1    Rio, M.2    de Pontual, L.3    Redon, R.4    Malan, V.5    Boddaert, N.6    Plouin, P.7    Carter, N.P.8    Lyonnet, S.9    Munnich, A.10
  • 9
    • 34447305469 scopus 로고    scopus 로고
    • Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
    • Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, et al (2007) Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet 16:1488-1494
    • (2007) Hum Mol Genet , vol.16 , pp. 1488-1494
    • Brockschmidt, A.1    Todt, U.2    Ryu, S.3    Hoischen, A.4    Landwehr, C.5    Birnbaum, S.6    Frenck, W.7    Radlwimmer, B.8    Lichter, P.9    Engels, H.10
  • 13
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Autism Genome Project Consortium
    • Autism Genome Project Consortium (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39:319-328
    • (2007) Nat Genet , vol.39 , pp. 319-328
  • 17
    • 0023158893 scopus 로고
    • Thrombocytopenia and absent radius (TAR) syndrome
    • Hall JG (1987) Thrombocytopenia and absent radius (TAR) syndrome. J Med Genet 24:79-83
    • (1987) J Med Genet , vol.24 , pp. 79-83
    • Hall, J.G.1
  • 20
    • 0032902394 scopus 로고    scopus 로고
    • Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery
    • Shelton SD, Paulyson K, Kay HH (1999) Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery. Prenat Diagn 19:54-57
    • (1999) Prenat Diagn , vol.19 , pp. 54-57
    • Shelton, S.D.1    Paulyson, K.2    Kay, H.H.3
  • 22
    • 18244371639 scopus 로고    scopus 로고
    • First-trimester diagnosis of thrombocytopenia-absent radius (TAR) syndrome in a triplet pregnancy
    • Bellver J, Lara C, Perez-Aytes A, Pellicer A, Remohi J, Serra V (2005) First-trimester diagnosis of thrombocytopenia-absent radius (TAR) syndrome in a triplet pregnancy. Prenat Diagn 25:332-334
    • (2005) Prenat Diagn , vol.25 , pp. 332-334
    • Bellver, J.1    Lara, C.2    Perez-Aytes, A.3    Pellicer, A.4    Remohi, J.5    Serra, V.6
  • 23
    • 0030789326 scopus 로고    scopus 로고
    • Thrombopoietin in patients with congenital thrombocytopenia and absent radii: Elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin
    • Ballmaier M, Schulze H, Strauss G, Cherkaoui K, Wittner N, Lynen S, Wolters S, Bogenberger J, Welte K (1997) Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin. Blood 90:612-619
    • (1997) Blood , vol.90 , pp. 612-619
    • Ballmaier, M.1    Schulze, H.2    Strauss, G.3    Cherkaoui, K.4    Wittner, N.5    Lynen, S.6    Wolters, S.7    Bogenberger, J.8    Welte, K.9
  • 24
    • 0026763372 scopus 로고
    • Percutaneous umbilical blood sampling: Results from a multicenter collaborative registry
    • The Western Collaborative Perinatal Group
    • Hickok DE, Mills M, The Western Collaborative Perinatal Group (1992) Percutaneous umbilical blood sampling: results from a multicenter collaborative registry. Am J Obstet Gynecol 166:1614-1618
    • (1992) Am J Obstet Gynecol , vol.166 , pp. 1614-1618
    • Hickok, D.E.1    Mills, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.