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 *

157 related articles for article (PubMed ID: 24838992)

  • 1. A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.
    Al Kaissi A; Ganger R; Rötzer KM; Klaushofer K; Grill F
    Am J Med Genet A; 2014 Sep; 164A(9):2338-43. PubMed ID: 24838992
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
    Paththinige CS; Sirisena ND; Escande F; Manouvrier S; Petit F; Dissanayake VHW
    BMC Med Genet; 2019 Jun; 20(1):108. PubMed ID: 31200655
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.
    Lezirovitz K; Maestrelli SR; Cotrim NH; Otto PA; Pearson PL; Mingroni-Netto RC
    Hum Genet; 2008 Jul; 123(6):625-31. PubMed ID: 18493797
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.
    Shen Y; Si N; Liu Z; Liu F; Meng X; Zhang Y; Zhang X
    Orphanet J Rare Dis; 2018 Jul; 13(1):106. PubMed ID: 29970136
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
    Armour CM; Bulman DE; Jarinova O; Rogers RC; Clarkson KB; DuPont BR; Dwivedi A; Bartel FO; McDonell L; Schwartz CE; Boycott KM; Everman DB; Graham GE
    Eur J Hum Genet; 2011 Nov; 19(11):1144-51. PubMed ID: 21629300
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.
    Petit F; Andrieux J; Demeer B; Collet LM; Copin H; Boudry-Labis E; Escande F; Manouvrier-Hanu S; Mathieu-Dramard M
    Eur J Med Genet; 2013 Feb; 56(2):88-92. PubMed ID: 23202277
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
    Klopocki E; Lohan S; Doelken SC; Stricker S; Ockeloen CW; Soares Thiele de Aguiar R; Lezirovitz K; Mingroni Netto RC; Jamsheer A; Shah H; Kurth I; Habenicht R; Warman M; Devriendt K; Kordass U; Hempel M; Rajab A; Mäkitie O; Naveed M; Radhakrishna U; Antonarakis SE; Horn D; Mundlos S
    J Med Genet; 2012 Feb; 49(2):119-25. PubMed ID: 22147889
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.
    Petit F; Jourdain AS; Andrieux J; Baujat G; Baumann C; Beneteau C; David A; Faivre L; Gaillard D; Gilbert-Dussardier B; Jouk PS; Le Caignec C; Loget P; Pasquier L; Porchet N; Holder-Espinasse M; Manouvrier-Hanu S; Escande F
    Clin Genet; 2014 May; 85(5):464-9. PubMed ID: 23790188
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia.
    Shah K; Shah H
    BMJ Case Rep; 2016 Aug; 2016():. PubMed ID: 27530878
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.
    Babbs C; Heller R; Everman DB; Crocker M; Twigg SR; Schwartz CE; Giele H; Wilkie AO
    Hum Genet; 2007 Sep; 122(2):191-9. PubMed ID: 17569090
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
    Kantaputra PN; Chalidapong P
    Am J Med Genet; 2000 Jul; 93(2):126-31. PubMed ID: 10869115
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A pair of sibs with tibial hemimelia born to phenotypically normal parents.
    Matsuyama J; Mabuchi A; Zhang J; Iida A; Ikeda T; Kimizuka M; Ikegawa S
    J Hum Genet; 2003; 48(4):173-6. PubMed ID: 12730719
    [TBL] [Abstract][Full Text] [Related]  

  • 13. BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling.
    Chouery E; Tahan E; Karam R; Pharoun J; Mehawej C; Megarbane A
    Am J Med Genet A; 2023 Apr; 191(4):923-929. PubMed ID: 36565049
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter.
    Al Kaissi A; Ganger R; Klaushofer K; Grill F
    Afr J Paediatr Surg; 2014; 11(1):3-7. PubMed ID: 24647283
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
    Nagata E; Kano H; Kato F; Yamaguchi R; Nakashima S; Takayama S; Kosaki R; Tonoki H; Mizuno S; Watanabe S; Yoshiura K; Kosho T; Hasegawa T; Kimizuka M; Suzuki A; Shimizu K; Ohashi H; Haga N; Numabe H; Horii E; Nagai T; Yoshihashi H; Nishimura G; Toda T; Takada S; Yokoyama S; Asahara H; Sano S; Fukami M; Ikegawa S; Ogata T
    Orphanet J Rare Dis; 2014 Oct; 9():125. PubMed ID: 25351291
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.
    Naveed M; Nath SK; Gaines M; Al-Ali MT; Al-Khaja N; Hutchings D; Golla J; Deutsch S; Bottani A; Antonarakis SE; Ratnamala U; Radhakrishna U
    Am J Hum Genet; 2007 Jan; 80(1):105-11. PubMed ID: 17160898
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance.
    Majewski F; Küster W; ter Haar B; Goecke T
    Hum Genet; 1985; 70(2):136-47. PubMed ID: 4007857
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Duplication of 10q24 locus: broadening the clinical and radiological spectrum.
    Holder-Espinasse M; Jamsheer A; Escande F; Andrieux J; Petit F; Sowinska-Seidler A; Socha M; Jakubiuk-Tomaszuk A; Gerard M; Mathieu-Dramard M; Cormier-Daire V; Verloes A; Toutain A; Plessis G; Jonveaux P; Baumann C; David A; Farra C; Colin E; Jacquemont S; Rossi A; Mansour S; Ghali N; Moncla A; Lahiri N; Hurst J; Pollina E; Patch C; Ahn JW; Valat AS; Mezel A; Bourgeot P; Zhang D; Manouvrier-Hanu S
    Eur J Hum Genet; 2019 Apr; 27(4):525-534. PubMed ID: 30622331
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.
    Bukowska-Olech E; Sowińska-Seidler A; Wierzba J; Jamsheer A
    Orphanet J Rare Dis; 2022 Aug; 17(1):325. PubMed ID: 36028842
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q.
    Stevens CA; Moore CA
    Am J Med Genet; 1999 Aug; 85(4):409-12. PubMed ID: 10398269
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.