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 *

86 related articles for article (PubMed ID: 19504437)

  • 41. A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.
    Gao B; Hu J; Stricker S; Cheung M; Ma G; Law KF; Witte F; Briscoe J; Mundlos S; He L; Cheah KS; Chan D
    Nature; 2009 Apr; 458(7242):1196-200. PubMed ID: 19252479
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.
    Palka C; Antonucci I; Alfonsi M; Bedeschi MF; Mohn A; Lalatta F; Chiarelli F; Palka G; Stuppia L
    Clin Dysmorphol; 2012 Jul; 21(3):137-140. PubMed ID: 22406540
    [No Abstract]   [Full Text] [Related]  

  • 43. Brachydactyly type A1 with short humerus and associated skeletal features.
    Lacombe D; Delrue MA; Rooryck C; Morice-Picard F; Arveiler B; Maugey-Laulom B; Mundlos S; Toutain A; Chateil JF
    Am J Med Genet A; 2010 Dec; 152A(12):3016-21. PubMed ID: 21077205
    [TBL] [Abstract][Full Text] [Related]  

  • 44. A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.
    Demirhan O; Türkmen S; Schwabe GC; Soyupak S; Akgül E; Tastemir D; Karahan D; Mundlos S; Lehmann K
    J Med Genet; 2005 Apr; 42(4):314-7. PubMed ID: 15805157
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Altered microRNAs in C3H10T1/2 cells induced by p.E95K mutant IHH signaling.
    Zhou W; Chen L; Wu H; Wang T; Ma G; Wang B; Wang C; Zhang N; Zhang Y; He L; Qin S; Sun X; Zhang H; Shen L
    Hereditas; 2021 Dec; 158(1):48. PubMed ID: 34922634
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.
    Jang MA; Kim OH; Kim SW; Ki CS
    Ann Lab Med; 2015 May; 35(3):387-9. PubMed ID: 25932455
    [No Abstract]   [Full Text] [Related]  

  • 47. Whole-exome sequencing identifies a novel
    Ho R; McIntyre AD; Kennedy BA; Hegele RA
    SAGE Open Med Case Rep; 2018; 6():2050313X18818711. PubMed ID: 30574312
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the
    Zeng F; Liu H; Xia X; Shu Y; Cheng W; Xu H; Yin G; Xie Q
    Front Genet; 2022; 13():814786. PubMed ID: 35669189
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
    Afzal AR; Rajab A; Fenske CD; Oldridge M; Elanko N; Ternes-Pereira E; Tüysüz B; Murday VA; Patton MA; Wilkie AO; Jeffery S
    Nat Genet; 2000 Aug; 25(4):419-22. PubMed ID: 10932186
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.
    Giordano N; Gennari L; Bruttini M; Mari F; Meloni I; Baldi C; Capoccia S; Geraci S; Merlotti D; Amendola A; Martini G; Nuti R; Gennari C; Renieri A
    J Med Genet; 2003 Feb; 40(2):132-5. PubMed ID: 12566523
    [No Abstract]   [Full Text] [Related]  

  • 51. Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
    Racacho L; Byrnes AM; MacDonald H; Dranse HJ; Nikkel SM; Allanson J; Rosser E; Underhill TM; Bulman DE
    Eur J Hum Genet; 2015 Dec; 23(12):1640-5. PubMed ID: 25758993
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A large duplication involving the IHH locus mimics acrocallosal syndrome.
    Yuksel-Apak M; Bögershausen N; Pawlik B; Li Y; Apak S; Uyguner O; Milz E; Nürnberg G; Karaman B; Gülgören A; Grzeschik KH; Nürnberg P; Kayserili H; Wollnik B
    Eur J Hum Genet; 2012 Jun; 20(6):639-44. PubMed ID: 22234151
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Childhood hypertension in autosomal-dominant hypertension with brachydactyly.
    Toka O; Maass PG; Aydin A; Toka H; Hübner N; Rüschendorf F; Gong M; Luft FC; Bähring S
    Hypertension; 2010 Nov; 56(5):988-94. PubMed ID: 20837885
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease.
    Ozyavuz Cubuk P; Duz MB
    Eur J Med Genet; 2021 Nov; 64(11):104343. PubMed ID: 34530144
    [TBL] [Abstract][Full Text] [Related]  

  • 55. CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder.
    Avgerinou GP; Asvesti AP; Katsambas AD; Nikolaou VA; Christofidou EC; Grzeschik KH; Happle R
    J Eur Acad Dermatol Venereol; 2010 Jun; 24(6):733-6. PubMed ID: 19906044
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Deletion and point mutations of PTHLH cause brachydactyly type E.
    Klopocki E; Hennig BP; Dathe K; Koll R; de Ravel T; Baten E; Blom E; Gillerot Y; Weigel JF; Krüger G; Hiort O; Seemann P; Mundlos S
    Am J Hum Genet; 2010 Mar; 86(3):434-9. PubMed ID: 20170896
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.
    Badura-Stronka M; Mróz D; Beighton P; Łukawiecki S; Wicher K; Latos-Bieleńska A; Kozłowski K
    Birth Defects Res A Clin Mol Teratol; 2015 Jun; 103(6):567-72. PubMed ID: 25776145
    [TBL] [Abstract][Full Text] [Related]  

  • 58. A new mutation in the gene ROR2 causes brachydactyly type B1.
    Huang D; Jiang S; Zhang Y; Liu X; Zhang J; He R
    Gene; 2014 Aug; 547(1):106-10. PubMed ID: 24954533
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.
    Díaz-González F; Sentchordi-Montané L; Lucas-Castro E; Modamio-Høybjør S; Heath KE
    Eur J Endocrinol; 2024 Jul; 191(1):38-46. PubMed ID: 38917024
    [TBL] [Abstract][Full Text] [Related]  

  • 60. A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
    Lehmann K; Seemann P; Boergermann J; Morin G; Reif S; Knaus P; Mundlos S
    Eur J Hum Genet; 2006 Dec; 14(12):1248-54. PubMed ID: 16957682
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.