메뉴 건너뛰기




Volumn 22, Issue 2, 2011, Pages 173-185

Dysmorphological and pharmacological studies in 4q- syndrome

Author keywords

4q deletion syndrome; 4q syndrome; Drug treatment; Dysmorphology; Food supplement; Pharmacology; Therapy

Indexed keywords

CARNITINE; GROWTH HORMONE; MELATONIN; MULTIVITAMIN; OMEGA 3 FATTY ACID; PLANT EXTRACT; PRESCRIPTION DRUG; PROBIOTIC AGENT; THIOCTIC ACID; UBIDECARENONE;

EID: 79960749405     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (46)
  • 4
    • 77950255849 scopus 로고    scopus 로고
    • Antioxidant diet supplementation starting 24 hours after exposure reduces radiation lethality
    • BROWN S.L., KOLOZSVARY A., LIU J., JENROW K.A., RYU S., KIM J.H.: Antioxidant diet supplementation starting 24 hours after exposure reduces radiation lethality. Radiat. Res., 2010, 173, 462-468.
    • (2010) Radiat. Res. , vol.173 , pp. 462-468
    • Brown, S.L.1    Kolozsvary, A.2    Liu, J.3    Jenrow, K.A.4    Ryu, S.5    Kim, J.H.6
  • 5
    • 77951799018 scopus 로고    scopus 로고
    • Updated meta-analysis of probiotics for preventing necrotizing enterocolitis in preterm neonates
    • DESHPANDE G., RAO S., PATOLE S., BULSARA M.: Updated meta-analysis of probiotics for preventing necrotizing enterocolitis in preterm neonates. Pediatrics, 2010, 125, 921-930.
    • (2010) Pediatrics , vol.125 , pp. 921-930
    • Deshpande, G.1    Rao, S.2    Patole, S.3    Bulsara, M.4
  • 6
    • 75449084924 scopus 로고    scopus 로고
    • A review of facial image analysis for delineation of the facial phenotype associated with fetal alcohol syndrome
    • DOUGUS T.S., MUTSVANGWA T.E.: A review of facial image analysis for delineation of the facial phenotype associated with fetal alcohol syndrome. Am. J Med. Genet. A, 2010, 152A, 528-536.
    • (2010) Am. J. Med. Genet. A , vol.152 A , pp. 528-536
    • Dougus, T.S.1    Mutsvangwa, T.E.2
  • 8
    • 74349096419 scopus 로고    scopus 로고
    • Antioxidant properties of an endogenous thiol: Alpha-lipoic acid, useful in the prevention of cardiovascular diseases
    • GHIBU S., RICHARD C., VERGELY C., ZELLER M., COTTIN Y., ROCHETTE L.: Antioxidant properties of an endogenous thiol: alpha-lipoic acid, useful in the prevention of cardiovascular diseases. J. Cardiovasc. Pharmacol., 2009, 54, 391-398.
    • (2009) J. Cardiovasc. Pharmacol. , vol.54 , pp. 391-398
    • Ghibu, S.1    Richard, C.2    Vergely, C.3    Zeller, M.4    Cottin, Y.5    Rochette, L.6
  • 9
    • 5444231486 scopus 로고    scopus 로고
    • Disease genes and chromosomes: Disease maps of the human genome. Chromosome 4
    • GOLDFRANK D., SCHOENBERGER E., GILBERT F.: Disease genes and chromosomes: disease maps of the human genome. Chromosome 4. Genet. Test., 2003, 7, 351-372.
    • (2003) Genet. Test. , vol.7 , pp. 351-372
    • Goldfrank, D.1    Schoenberger, E.2    Gilbert, F.3
  • 10
    • 77649150349 scopus 로고    scopus 로고
    • Update on the role of probiotics in the therapy of pediatric inflammatory bowel disease
    • GUANDALINI S.: Update on the role of probiotics in the therapy of pediatric inflammatory bowel disease. Expert Rev. Clin. Immunol., 2010, 6, 47-54.
    • (2010) Expert Rev. Clin. Immunol. , vol.6 , pp. 47-54
    • Guandalini, S.1
  • 12
    • 36849077170 scopus 로고    scopus 로고
    • The use of 3D face shape modelling in dysmorphology
    • HAMMOND P.: The use of 3D face shape modelling in dysmorphology. Arch. Dis. Child., 2007, 92, 1120-1126.
    • (2007) Arch. Dis. Child. , vol.92 , pp. 1120-1126
    • Hammond, P.1
  • 13
    • 76749125875 scopus 로고    scopus 로고
    • Omega-6 and omega-3 fatty acids: Partners in prevention
    • HARRIS W.: Omega-6 and omega-3 fatty acids: partners in prevention. Curr. Opin. Clin. Nutr. Metab. Care, 2010, 13, 125-129.
    • (2010) Curr. Opin. Clin. Nutr. Metab. Care , vol.13 , pp. 125-129
    • Harris, W.1
  • 16
    • 38549175825 scopus 로고    scopus 로고
    • Karyotype, ploidy, and gene dosage
    • Jun. 25
    • HODGKIN J.: Karyotype, ploidy, and gene dosage. WormBook, 2005, Jun. 25, 1-9. http://www.ncbi.nlm.nih.gov/books/NBK19656/
    • (2005) WormBook , pp. 1-9
    • Hodgkin, J.1
  • 17
    • 55549113578 scopus 로고    scopus 로고
    • Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1
    • HOLLOX E.J., BARBER J.C., BROOKES A.J., ARMOUR J.A.: Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1. Genome Res., 2008, 18, 1686-1697.
    • (2008) Genome Res. , vol.18 , pp. 1686-1697
    • Hollox, E.J.1    Barber, J.C.2    Brookes, A.J.3    Armour, J.A.4
  • 18
    • 53049094677 scopus 로고    scopus 로고
    • How can we treat mitochondrial encephalopathies? Approaches to therapy
    • HORVATH R., GORMAN G., CHINNERY P.F.: How can we treat mitochondrial encephalopathies? Approaches to therapy. Neurotherapeutics, 2008, 5, 558-568.
    • (2008) Neurotherapeutics , vol.5 , pp. 558-568
    • Horvath, R.1    Gorman, G.2    Chinnery, P.F.3
  • 19
    • 84925854063 scopus 로고    scopus 로고
    • The evidence base for growth hormone effectiveness in children
    • KELNAR C.J.: The evidence base for growth hormone effectiveness in children. Endocr. Dev., 2010, 18, 23-39.
    • (2010) Endocr. Dev. , vol.18 , pp. 23-39
    • Kelnar, C.J.1
  • 23
    • 0024659315 scopus 로고
    • Developmental processes, developmental sequences and early vertebrate phylogeny
    • LANGILLE R.M., HALL B.K.: Developmental processes, developmental sequences and early vertebrate phylogeny. Biol. Rev. Camb. Philos. Soc., 1989, 64, 73-91.
    • (1989) Biol. Rev. Camb. Philos. Soc. , vol.64 , pp. 73-91
    • Langille, R.M.1    Hall, B.K.2
  • 24
    • 77749233899 scopus 로고    scopus 로고
    • Role of probiotics in pediatric patients with Helicobacter pylori infection: A comprehensive review of the literature
    • LIONETTI E., INDRIO F., PAVONE L., BORRELLI G., CAVALLO L., FRANCAVILLA R.: Role of probiotics in pediatric patients with Helicobacter pylori infection: a comprehensive review of the literature. Helicobacter, 2010, 15, 79-87.
    • (2010) Helicobacter , vol.15 , pp. 79-87
    • Lionetti, E.1    Indrio, F.2    Pavone, L.3    Borrelli, G.4    Cavallo, L.5    Francavilla, R.6
  • 25
    • 67650633001 scopus 로고    scopus 로고
    • Probiotics, immune function, infection and inflammation: A review of the evidence from studies conducted in humans
    • LOMAX A.R., CALDER P.C.: Probiotics, immune function, infection and inflammation: a review of the evidence from studies conducted in humans. Curr. Pharm. Des., 2009, 15, 1428-1518.
    • (2009) Curr. Pharm. Des. , vol.15 , pp. 1428-1518
    • Lomax, A.R.1    Calder, P.C.2
  • 26
    • 77956578017 scopus 로고    scopus 로고
    • Chromosome 4q deletion syndrome: Craniofacial characteristics associated with monosomy of the long arm of chromosome 4q
    • MARKIEWICZ M.R., VERSCHUEREN D., ASSAEL L.: Chromosome 4q deletion syndrome: craniofacial characteristics associated with monosomy of the long arm of chromosome 4q. Cleft Palate Craniofac. J., 2010, 47, 518-522.
    • (2010) Cleft Palate Craniofac. J. , vol.47 , pp. 518-522
    • Markiewicz, M.R.1    Verschueren, D.2    Assael, L.3
  • 27
    • 38949215389 scopus 로고    scopus 로고
    • Regulation of fetal growth: Consequences and impact of being born small
    • MULLIS P.E., TONELU P.: Regulation of fetal growth: consequences and impact of being born small. Best Pract. Res. Clin. Endocrinol. Metab., 2008, 22, 173-190.
    • (2008) Best Pract. Res. Clin. Endocrinol. Metab. , vol.22 , pp. 173-190
    • Mullis, P.E.1    Tonelu, P.2
  • 29
    • 34147109810 scopus 로고    scopus 로고
    • A girl with del(4)(q33) and occipital encephalocele: Clinical description and molecular genetic characterization of a rare patient
    • QUADRELLI R., STREHLE E.M., VAGLIO A., LARRANDABURU M., MECHOSO B., QUADRELLI A., FAN Y.S., HUANG T.: A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient. Genet. Test., 2007, 11, 4-10.
    • (2007) Genet. Test. , vol.11 , pp. 4-10
    • Quadrelli, R.1    Strehle, E.M.2    Vaglio, A.3    Larrandaburu, M.4    Mechoso, B.5    Quadrelli, A.6    Fan, Y.S.7    Huang, T.8
  • 30
    • 77952752313 scopus 로고    scopus 로고
    • Molecular and cellular mechanisms elucidating neurocognitive basis of functional impairments associated with intellectual disability in Down syndrome
    • RACHIDI M., LOPES C.: Molecular and cellular mechanisms elucidating neurocognitive basis of functional impairments associated with intellectual disability in Down syndrome. Am. J. Intellect. Dev. Disabil., 2010, 115, 83-112.
    • (2010) Am. J. Intellect. Dev. Disabil. , vol.115 , pp. 83-112
    • Rachidi, M.1    Lopes, C.2
  • 32
    • 66749095313 scopus 로고    scopus 로고
    • The future of research into growth hormone responsiveness
    • ROSENFELD R.G.: The future of research into growth hormone responsiveness. Horm. Res., 2009, 71, 71-74.
    • (2009) Horm. Res. , vol.71 , pp. 71-74
    • Rosenfeld, R.G.1
  • 33
    • 71949122225 scopus 로고    scopus 로고
    • Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature
    • ROSSI M.R., DIMAIO M.S., XIANG B., LU K., KAYMAKCALAN H., SEASHORE M., MAHONEY M.J., LI P.: Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature. Am. J Med. Genet. A, 2009, 149A, 2788-2794.
    • (2009) Am. J. Med. Genet. A , vol.149 A , pp. 2788-2794
    • Rossi, M.R.1    Dimaio, M.S.2    Xiang, B.3    Lu, K.4    Kaymakcalan, H.5    Seashore, M.6    Mahoney, M.J.7    Li, P.8
  • 34
    • 75649107225 scopus 로고    scopus 로고
    • Novel and emerging treatments for autism spectrum disorders: A systematic review
    • ROSSIGNOL D.A.: Novel and emerging treatments for autism spectrum disorders: a systematic review. Ann. Clin. Psychiatry, 2009, 21, 213-236.
    • (2009) Ann. Clin. Psychiatry , vol.21 , pp. 213-236
    • Rossignol, D.A.1
  • 40
    • 34249724327 scopus 로고    scopus 로고
    • New insights concerning the role of carnitine in the regulation of fuel metabolism in skeletal muscle
    • STEPHENS F.B., CONSTANTIN-TEODOSIOU D., GREENHAFF P.L.: New insights concerning the role of carnitine in the regulation of fuel metabolism in skeletal muscle. J. Physiol., 2007, 581, 431-444.
    • (2007) J. Physiol. , vol.581 , pp. 431-444
    • Stephens, F.B.1    Constantin-Teodosiou, D.2    Greenhaff, P.L.3
  • 42
    • 0038006216 scopus 로고    scopus 로고
    • The phenotype of patients with 4q-syndrome
    • STREHLE E.M., BANTOCK H.M.: The phenotype of patients with 4q-syndrome. Genet. Couns., 2003, 14, 195-205.
    • (2003) Genet. Couns. , vol.14 , pp. 195-205
    • Strehle, E.M.1    Bantock, H.M.2
  • 43
    • 34547172700 scopus 로고    scopus 로고
    • Children with 4q-syndrome: The parents' perspective
    • STREHLE E.M., MIDDLEMSS P.M.: Children with 4q-syndrome: the parents' perspective. Genet. Couns., 2007, 18, 189-199.
    • (2007) Genet. Couns. , vol.18 , pp. 189-199
    • Strehle, E.M.1    Middlemss, P.M.2
  • 44
    • 39549106490 scopus 로고    scopus 로고
    • Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: A cohort study
    • UK CLINICAL GENETCS GROUP
    • SWERDLOW A.J., SCHOEMAKER M.J., HIGGINS C.D., WRIGHT A.F., JACOBS P.A., UK CLINICAL GENETCS GROUP: Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study. Hum. Genet., 2008, 123, 215-224.
    • (2008) Hum. Genet. , vol.123 , pp. 215-224
    • Swerdlow, A.J.1    Schoemaker, M.J.2    Higgins, C.D.3    Wright, A.F.4    Jacobs, P.A.5
  • 45
    • 33748262043 scopus 로고    scopus 로고
    • Mosaicism for terminal deletion 4q
    • UTINE G.E., AKTAS D.: Mosaicism for terminal deletion 4q. Genet. Couns., 2006, 17, 205-209.
    • (2006) Genet. Couns. , vol.17 , pp. 205-209
    • Utine, G.E.1    Aktas, D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.