These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 20003547)

  • 41. SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.
    Böhm J; Munk-Schulenburg S; Felscher S; Kohlhase J
    Am J Med Genet A; 2006 Sep; 140(18):1904-8. PubMed ID: 16892410
    [TBL] [Abstract][Full Text] [Related]  

  • 42. 16q12 microdeletion syndrome in two Japanese boys.
    Morisada N; Sekine T; Ishimori S; Tsuda M; Adachi M; Nozu K; Nakanishi K; Tanaka R; Iijima K
    Pediatr Int; 2014 Oct; 56(5):e75-8. PubMed ID: 25336016
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.
    Surka WS; Kohlhase J; Neunert CE; Schneider DS; Proud VK
    Am J Med Genet; 2001 Aug; 102(3):250-7. PubMed ID: 11484202
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Syndromic ear anomalies and renal ultrasounds.
    Wang RY; Earl DL; Ruder RO; Graham JM
    Pediatrics; 2001 Aug; 108(2):E32. PubMed ID: 11483842
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
    Schilter KF; Reis LM; Schneider A; Bardakjian TM; Abdul-Rahman O; Kozel BA; Zimmerman HH; Broeckel U; Semina EV
    Clin Genet; 2013 Nov; 84(5):473-81. PubMed ID: 23701296
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
    Ballif BC; Theisen A; McDonald-McGinn DM; Zackai EH; Hersh JH; Bejjani BA; Shaffer LG
    Clin Genet; 2008 Nov; 74(5):469-75. PubMed ID: 18811697
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.
    Suzumori N; Kaname T; Muramatsu Y; Yanagi K; Kumagai K; Mizuno S; Naritomi K; Saitoh S; Sugiura-Ogasawara M
    J Obstet Gynaecol Res; 2013 Nov; 39(11):1545-7. PubMed ID: 23815237
    [TBL] [Abstract][Full Text] [Related]  

  • 48. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
    Martínez-Garay I; Tomás M; Oltra S; Ramser J; Moltó MD; Prieto F; Meindl A; Kutsche K; Martínez F
    Eur J Hum Genet; 2007 Jan; 15(1):29-34. PubMed ID: 17033686
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.
    Borozdin W; Steinmann K; Albrecht B; Bottani A; Devriendt K; Leipoldt M; Kohlhase J
    Hum Mutat; 2006 Feb; 27(2):211-2. PubMed ID: 16429401
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.
    Wang Z; Sun Z; Diao Y; Wang Z; Yang X; Jiang B; Wu Y; Liu G
    Orphanet J Rare Dis; 2023 Aug; 18(1):250. PubMed ID: 37644569
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Townes-Brocks syndrome with hypothyroidism.
    Goswami V; Dubey NK
    Indian Pediatr; 2007 Feb; 44(2):140-2. PubMed ID: 17351307
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
    Kohlhase J; Wischermann A; Reichenbach H; Froster U; Engel W
    Nat Genet; 1998 Jan; 18(1):81-3. PubMed ID: 9425907
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.
    Kosaki R; Fujimaru R; Samejima H; Yamada H; Izumi K; Iijima K; Kosaki K
    Am J Med Genet A; 2007 May; 143A(10):1087-90. PubMed ID: 17431915
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.
    Forrester S; Kovach MJ; Reynolds NM; Urban R; Kimonis V
    Am J Med Genet; 2001 Jan; 98(1):92-100. PubMed ID: 11426460
    [TBL] [Abstract][Full Text] [Related]  

  • 55. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
    Botzenhart EM; Green A; Ilyina H; König R; Lowry RB; Lo IF; Shohat M; Burke L; McGaughran J; Chafai R; Pierquin G; Michaelis RC; Whiteford ML; Simola KO; Rösler B; Kohlhase J
    Hum Mutat; 2005 Sep; 26(3):282. PubMed ID: 16088922
    [TBL] [Abstract][Full Text] [Related]  

  • 56. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
    Hilton E; Johnston J; Whalen S; Okamoto N; Hatsukawa Y; Nishio J; Kohara H; Hirano Y; Mizuno S; Torii C; Kosaki K; Manouvrier S; Boute O; Perveen R; Law C; Moore A; Fitzpatrick D; Lemke J; Fellmann F; Debray FG; Dastot-Le-Moal F; Gerard M; Martin J; Bitoun P; Goossens M; Verloes A; Schinzel A; Bartholdi D; Bardakjian T; Hay B; Jenny K; Johnston K; Lyons M; Belmont JW; Biesecker LG; Giurgea I; Black G
    Eur J Hum Genet; 2009 Oct; 17(10):1325-35. PubMed ID: 19367324
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations.
    Okumus N; Zenciroglu A; Demirel N; Bas AY; Ceylaner S
    Genet Couns; 2008; 19(2):177-82. PubMed ID: 18618992
    [TBL] [Abstract][Full Text] [Related]  

  • 58. A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
    Zlotina A; Melnik O; Fomicheva Y; Skitchenko R; Sergushichev A; Shagimardanova E; Gusev O; Gazizova G; Loevets T; Vershinina T; Kozyrev I; Gordeev M; Vasichkina E; Pervunina T; Kostareva A
    BMC Med Genomics; 2020 Nov; 13(1):175. PubMed ID: 33218365
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
    Ragge N; Isidor B; Bitoun P; Odent S; Giurgea I; Cogné B; Deb W; Vincent M; Le Gall J; Morton J; Lim D; ; Le Meur G; Zazo Seco C; Zafeiropoulou D; Bax D; Zwijnenburg P; Arteche A; Swafiri ST; Cleaver R; McEntagart M; Kini U; Newman W; Ayuso C; Corton M; Herenger Y; Jeanne M; Calvas P; Chassaing N
    Hum Genet; 2019 Sep; 138(8-9):1051-1069. PubMed ID: 29974297
    [TBL] [Abstract][Full Text] [Related]  

  • 60.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

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