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 *

120 related articles for article (PubMed ID: 33694158)

  • 61. An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
    Paige Taylor S; Kunova Bosakova M; Varecha M; Balek L; Barta T; Trantirek L; Jelinkova I; Duran I; Vesela I; Forlenza KN; Martin JH; Hampl A; ; Bamshad M; Nickerson D; Jaworski ML; Song J; Ko HW; Cohn DH; Krakow D; Krejci P
    Hum Mol Genet; 2016 Sep; 25(18):3998-4011. PubMed ID: 27466187
    [TBL] [Abstract][Full Text] [Related]  

  • 62. High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation.
    Kovács N; Sárkány I; Mohay G; Adamovich K; Ertl T; Kosztolányi G; Kellermayer R
    Am J Med Genet A; 2006 Dec; 140(24):2816-8. PubMed ID: 17058284
    [No Abstract]   [Full Text] [Related]  

  • 63. Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.
    Takamine Y; Krejci P; Mekikian PB; Wilcox WR
    Am J Med Genet A; 2004 Sep; 130A(1):96-7. PubMed ID: 15368503
    [No Abstract]   [Full Text] [Related]  

  • 64. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
    Krakow D; Salazar D; Wilcox WR; Rimoin DL; Cohn DH
    Eur J Hum Genet; 2000 Aug; 8(8):645-8. PubMed ID: 10951528
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome).
    Kumru P; Aka N; Köse G; Vural ZT; Peker O; Kayserili H
    Fetal Diagn Ther; 2005; 20(5):410-4. PubMed ID: 16113563
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Early transvaginal ultrasonographic diagnosis of Beemer-Langer dysplasia: a report of two cases.
    den Hollander NS; van der Harten HJ; Laudy JA; van de Weg P; Wladimiroff JW
    Ultrasound Obstet Gynecol; 1998 Apr; 11(4):298-302. PubMed ID: 9618859
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Recurrence of short rib polydactyly syndrome - a rare skeletal dysplasia.
    Malhotra N; Sood M
    Eur J Obstet Gynecol Reprod Biol; 2000 Apr; 89(2):193-5. PubMed ID: 10725582
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.
    Cavalcanti DP; Huber C; Sang KH; Baujat G; Collins F; Delezoide AL; Dagoneau N; Le Merrer M; Martinovic J; Mello MF; Vekemans M; Munnich A; Cormier-Daire V
    J Med Genet; 2011 Feb; 48(2):88-92. PubMed ID: 19648123
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.
    Bernstein R; Isdale J; Pinto M; Du Toit Zaaijman J; Jenkins T
    J Med Genet; 1985 Feb; 22(1):46-53. PubMed ID: 3981580
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Complex interactions between genes controlling trafficking in primary cilia.
    Ocbina PJ; Eggenschwiler JT; Moskowitz I; Anderson KV
    Nat Genet; 2011 Jun; 43(6):547-53. PubMed ID: 21552265
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.
    Ho NC; Francomano CA; van Allen M
    Am J Med Genet; 2000 Feb; 90(4):310-4. PubMed ID: 10710229
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.
    Lin AE; Doshi N; Flom L; Tenenholz B; Filkins KL
    Am J Med Genet; 1991 Jun; 39(3):247-51. PubMed ID: 1867273
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly.
    Elçioğlu N; Karatekin G; Sezgin B; Nuhoğlu A; Cenani A
    Clin Genet; 1996 Sep; 50(3):159-63. PubMed ID: 8946117
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome.
    Young LW; Wilhelm LL; Zuppan CW; Clark R
    Pediatr Radiol; 2001 Jan; 31(1):31-5. PubMed ID: 11200995
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Short rib-polydactyly syndrome.
    Naki MM; Gür D; Zemheri E; Tekcan C; Kanadikirik F; Has R
    Arch Gynecol Obstet; 2005 Jul; 272(2):173-5. PubMed ID: 15605271
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.
    Sillence D; Kozlowski K; Bar-ziv J; Fuhrumann-Rieger A; Fuhrmann W; Pascu F
    Pediatr Radiol; 1987; 17(6):474-80. PubMed ID: 3684360
    [TBL] [Abstract][Full Text] [Related]  

  • 77. [Typical complications of short rib polydactyly syndrome].
    Wilke A; Schmoll J
    Klin Padiatr; 1994; 206(2):112-5. PubMed ID: 8196308
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Short rib polydactyly syndrome - type 2 (Majewski).
    Nair V; Prakash KL; Bhat BV
    Indian J Pediatr; 2007 Nov; 74(11):1029-31. PubMed ID: 18057685
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Lethal short-rib with median cleft and without polydactyly: a fourth case.
    van Maldergem L; Gillerot Y; Salmin E; Verloes A; Koulischer L
    Pediatr Radiol; 1990; 20(5):367-8. PubMed ID: 2349022
    [TBL] [Abstract][Full Text] [Related]  

  • 80. In reply to "Short-rib syndrome Beemer-Langer type, a short history".
    Cavalcanti DP
    Am J Med Genet A; 2018 Aug; 176(8):1784. PubMed ID: 30044529
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.