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 *

138 related articles for article (PubMed ID: 18203178)

  • 1. A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).
    Gabbett MT; Clark RC; McGaughran JM
    Am J Med Genet A; 2008 Feb; 146A(4):450-2. PubMed ID: 18203178
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Report of a patient with Temple-Baraitser syndrome.
    Yesil G; Guler S; Yuksel A; Alanay Y
    Am J Med Genet A; 2014 Mar; 164A(3):848-51. PubMed ID: 24357613
    [No Abstract]   [Full Text] [Related]  

  • 3. Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report.
    Wang H; Zhang X; Ding H
    Clin Dysmorphol; 2021 Jan; 30(1):27-31. PubMed ID: 32956079
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes.
    Shen JJ
    Clin Dysmorphol; 2015 Apr; 24(2):55-60. PubMed ID: 25629734
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
    Bramswig NC; Ockeloen CW; Czeschik JC; van Essen AJ; Pfundt R; Smeitink J; Poll-The BT; Engels H; Strom TM; Wieczorek D; Kleefstra T; Lüdecke HJ
    Hum Genet; 2015 Oct; 134(10):1089-97. PubMed ID: 26264464
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Triphalangy of thumbs and great toes.
    Qazi QH; Smithwick EM
    Am J Dis Child; 1970 Sep; 120(3):255-7. PubMed ID: 5458564
    [No Abstract]   [Full Text] [Related]  

  • 7. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
    Mégarbané A; Al-Ali R; Choucair N; Lek M; Wang E; Ladjimi M; Rose CM; Hobeika R; Macary Y; Temanni R; Jithesh PV; Chouchane A; Sastry KS; Thomas R; Tomei S; Liu W; Marincola FM; MacArthur D; Chouchane L
    BMC Med Genet; 2016 Jun; 17(1):42. PubMed ID: 27282200
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant.
    Chen D; Su J; Huang X; Chen H; Jiang T; Zhi C; Zhou Z; Zhang B; Yu L; Jiang X
    Hum Cell; 2024 May; 37(3):832-839. PubMed ID: 38372889
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
    Simons C; Rash LD; Crawford J; Ma L; Cristofori-Armstrong B; Miller D; Ru K; Baillie GJ; Alanay Y; Jacquinet A; Debray FG; Verloes A; Shen J; Yesil G; Guler S; Yuksel A; Cleary JG; Grimmond SM; McGaughran J; King GF; Gabbett MT; Taft RJ
    Nat Genet; 2015 Jan; 47(1):73-7. PubMed ID: 25420144
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Epilepsy in KCNH1-related syndromes.
    Mastrangelo M; Scheffer IE; Bramswig NC; Nair LD; Myers CT; Dentici ML; Korenke GC; Schoch K; Campeau PM; White SM; Shashi V; Kansagra S; Van Essen AJ; Leuzzi V
    Epileptic Disord; 2016 Jun; 18(2):123-36. PubMed ID: 27267311
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Temple-Baraitser syndrome: a rare and possibly unrecognized condition.
    Jacquinet A; Gérard M; Gabbett MT; Rausin L; Misson JP; Menten B; Mortier G; Van Maldergem L; Verloes A; Debray FG
    Am J Med Genet A; 2010 Sep; 152A(9):2322-6. PubMed ID: 20683999
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.
    Lande A; Kroken M; Rabben K; Retterstøl L
    Am J Med Genet A; 2018 Jan; 176(1):175-180. PubMed ID: 29159982
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Patients with
    Aubert Mucca M; Patat O; Whalen S; Arnaud L; Barcia G; Buratti J; Cogné B; Doummar D; Karsenty C; Kenis S; Leguern E; Lesca G; Nava C; Nizon M; Piton A; Valence S; Villard L; Weckhuysen S; Keren B; Mignot C
    J Med Genet; 2022 May; 59(5):505-510. PubMed ID: 33811134
    [TBL] [Abstract][Full Text] [Related]  

  • 14. "Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.
    Hamilton MJ; Suri M
    Adv Genet; 2020; 105():137-174. PubMed ID: 32560786
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cosmetic surgery for congenital nail deformities.
    Richert B; Choffray A; de la Brassinne M
    J Cosmet Dermatol; 2008 Dec; 7(4):304-8. PubMed ID: 19146608
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K
    Gripp KW; Smithson SF; Scurr IJ; Baptista J; Majumdar A; Pierre G; Williams M; Henderson LB; Wentzensen IM; McLaughlin H; Leeuwen L; Simon MEH; van Binsbergen E; Dinulos MBP; Kaplan JD; McRae A; Superti-Furga A; Good JM; Kutsche K
    Eur J Hum Genet; 2021 Sep; 29(9):1384-1395. PubMed ID: 33594261
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rubinstein-Taybi syndrome.
    Lowry MF
    JAMA; 1968 Dec; 206(12):2744. PubMed ID: 5754899
    [No Abstract]   [Full Text] [Related]  

  • 18. Severe mental retardation and absent nails of hallux and pollex.
    Temple IK; Baraitser M
    Am J Med Genet; 1991 Nov; 41(2):173-5. PubMed ID: 1785628
    [No Abstract]   [Full Text] [Related]  

  • 19. New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
    Severi G; Bernardini L; Briuglia S; Bigoni S; Buldrini B; Magini P; Dentici ML; Cordelli DM; Arrigo T; Franzoni E; Fini S; Italyankina E; Loddo I; Novelli A; Graziano C
    Am J Med Genet A; 2016 Jan; 170A(1):162-9. PubMed ID: 26333654
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The Coffin-Siris syndrome.
    Tunnessen WW; McMillan JA; Levin MB
    Am J Dis Child; 1978 Apr; 132(4):393-5. PubMed ID: 645658
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.