BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 11857617)

  • 21. Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.
    Sprecher E; Tesfaye-Kedjela A; Ratajczak P; Bergman R; Richard G
    Clin Exp Dermatol; 2004 Sep; 29(5):513-7. PubMed ID: 15347338
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large-sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin.
    Zhang Z; Pan C; Wei R; Li H; Yang Y; Chen J; Li M; Yao Z
    Mol Genet Genomic Med; 2021 Mar; 9(3):e1600. PubMed ID: 33452875
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Clinical value of MLPA in the prenatal gene diagnosis of Duchenne muscular dystrophy].
    Li Q; Li SY; Zhang HM; He WZ; Ma XY; Wang XM; Xian JJ; Sun XF; Chen DJ; Yu YH
    Zhonghua Fu Chan Ke Za Zhi; 2013 Mar; 48(3):161-4. PubMed ID: 23849935
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.
    Christiano AM; Pulkkinen L; McGrath JA; Uitto J
    Prenat Diagn; 1997 Apr; 17(4):343-54. PubMed ID: 9160387
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Prenatal diagnosis of beta-thalassemia in Egypt: implementing accurate high-tech methods did not reflect much on the outcome.
    Elgawhary S; Elbaradie Sahar MY; Rashad WM; Mosaad M; Abdalla MA; Ezzat G; Wali YA; Elbeshlawy A
    Pediatr Hematol Oncol; 2008 Sep; 25(6):541-8. PubMed ID: 18728973
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel Homozygous Mutations in the Genes
    Fozia F; Nazli R; Alam Khan S; Bari A; Nasir A; Ullah R; Mahmood HM; Sohaib M; Alobaid A; Ansari SA; Basit S; Khan S
    Genes (Basel); 2021 Mar; 12(3):. PubMed ID: 33807935
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A case of Netherton syndrome with mutation in SPINK5 and FLG.
    Shi ZR; Xu M; Tan GZ; Wang L; Guo Q; Tang ZQ
    Eur J Dermatol; 2017 Oct; 27(5):536-537. PubMed ID: 28943498
    [No Abstract]   [Full Text] [Related]  

  • 28. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).
    Christiano AM; LaForgia S; Paller AS; McGuire J; Shimizu H; Uitto J
    Mol Med; 1996 Jan; 2(1):59-76. PubMed ID: 8900535
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in
    Moltrasio C; Romagnuolo M; Riva D; Colavito D; Ferrucci SM; Marzano AV; Tadini G; Brena M
    Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239440
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
    Geyer AS; Ratajczak P; Pol-Rodriguez M; Millar WS; Garzon M; Richard G
    Dermatology; 2005; 210(4):308-14. PubMed ID: 15942217
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Netherton Syndrome in a Mother and Her Two Children.
    DeMoss J; Cooper L; Felts C; Wittenberg G
    S D Med; 2022 Dec; 75(12):554-556. PubMed ID: 36893349
    [TBL] [Abstract][Full Text] [Related]  

  • 32. First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
    Malvagia S; Morrone A; Pasquini E; Funghini S; la Marca G; Zammarchi E; Donati MA
    Prenat Diagn; 2005 Dec; 25(12):1117-9. PubMed ID: 16231399
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families.
    Deng Y; Sang S; Wen J; Liu Y; Ling J; Chen H; Cai X; Mei L; Chen X; Li M; Li W; Li T; He C; Feng Y
    Int J Pediatr Otorhinolaryngol; 2018 Dec; 115():114-119. PubMed ID: 30368370
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.
    Mattos EP; Silva AA; Magalhães JA; Leite JC; Leistner-Segal S; Gus-Kessler R; Perez JA; Vedolin LM; Torreblanca-Zanca A; Lapunzina P; Ruiz-Perez VL; Sanseverino MT
    Am J Med Genet A; 2015 Jun; 167(6):1323-9. PubMed ID: 25913727
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.
    Topçu M; Aktas D; Öztoprak M; Mungan NÖ; Yuce A; Alikasifoglu M
    Mol Diagn Ther; 2017 Dec; 21(6):643-651. PubMed ID: 28808920
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Prenatal genetic diagnosis of Neu-Laxova syndrome.
    Wood AM; Mottola AT; Rhee EH; Kuller JA
    J Obstet Gynaecol; 2018 Apr; 38(3):413-414. PubMed ID: 28903583
    [No Abstract]   [Full Text] [Related]  

  • 37. Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.
    Whittock NV; Turnpenny PD; Tuerlings J; Ellard S
    Prenat Diagn; 2003 Jul; 23(7):575-9. PubMed ID: 12868087
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI.
    Xi-Bao Z; San-Quan Z; Yu-Qing H; Yu-Wu L; Quan L; Chang-Xing L
    Indian J Dermatol; 2012 Jul; 57(4):265-8. PubMed ID: 22837558
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses.
    Mahmood Alsabbagh M
    Fetal Pediatr Pathol; 2024; 43(2):157-175. PubMed ID: 38204144
    [TBL] [Abstract][Full Text] [Related]  

  • 40. The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.
    Bellon N; Hadj-Rabia S; Moulin F; Lambe C; Lezmi G; Charbit-Henrion F; Alby C; Le Saché-de Peufeilhoux L; Leclerc-Mercier S; Hadchouel A; Steffann J; Hovnanian A; Lapillonne A; Bodemer C
    Br J Dermatol; 2021 Mar; 184(3):532-537. PubMed ID: 32479644
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.