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 *

112 related articles for article (PubMed ID: 1799425)

  • 1. Congenital hypoparathyroidism, ocular colobomata, unilateral renal agenesis and dysmorphic features.
    Baldellou A; Boné J; Tamparillas M; Rivas A; Pena M; Solsona B
    Genet Couns; 1991; 2(4):245-7. PubMed ID: 1799425
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Transient neonatal hypocalcemia. Onset Manifestation of the 22q11.2 deletion syndrome].
    Pusceddu M; Bertone A; Campra D; Pontoriero D; Guala A
    Minerva Pediatr; 2002 Aug; 54(4):343-5. PubMed ID: 12131871
    [No Abstract]   [Full Text] [Related]  

  • 3. Williams syndrome cognitive profile also characterizes Velocardiofacial/DiGeorge syndrome.
    Bearden CE; Wang PP; Simon TJ
    Am J Med Genet; 2002 Aug; 114(6):689-92. PubMed ID: 12210289
    [No Abstract]   [Full Text] [Related]  

  • 4. [DiGeorge syndrome. An underdiagnosed disease category with different clinical features].
    Graesdal A; Surén P; Vadstrup S
    Tidsskr Nor Laegeforen; 2001 Nov; 121(27):3177-9. PubMed ID: 11876140
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetics of hypoparathyroidism and pseudohypoparathyroidism.
    Brandi ML
    J Endocrinol Invest; 2011 Jul; 34(7 Suppl):27-34. PubMed ID: 21985977
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
    McDonald-McGinn DM; Kirschner R; Goldmuntz E; Sullivan K; Eicher P; Gerdes M; Moss E; Solot C; Wang P; Jacobs I; Handler S; Knightly C; Heher K; Wilson M; Ming JE; Grace K; Driscoll D; Pasquariello P; Randall P; Larossa D; Emanuel BS; Zackai EH
    Genet Couns; 1999; 10(1):11-24. PubMed ID: 10191425
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.
    Van Esch H; Groenen P; Fryns JP; Van de Ven W; Devriendt K
    Genet Couns; 1999; 10(1):59-65. PubMed ID: 10191430
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies.
    Marsden D; Nyhan WL; Sakati NO
    Am J Med Genet; 1994 Sep; 52(3):334-8. PubMed ID: 7810565
    [TBL] [Abstract][Full Text] [Related]  

  • 9. No colobomas in "renal coloboma" syndrome.
    Parsa CF; Goldberg MF; Hunter DG
    Ophthalmology; 2003 Feb; 110(2):251; author reply 251-2. PubMed ID: 12578762
    [No Abstract]   [Full Text] [Related]  

  • 10. Special imaging casebook. CHARGE association-DiGeorge syndrome with congenital short esophagus and single kidney.
    Herman TE; Siegel MJ
    J Perinatol; 1998; 18(4):322-4. PubMed ID: 9730208
    [No Abstract]   [Full Text] [Related]  

  • 11. First seizure as late presentation of velo-cardio-facial syndrome.
    Simão I; Lourenço T; Lopes L; Ramos MP
    J Pediatr Endocrinol Metab; 2013; 26(3-4):381-3. PubMed ID: 23327824
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Complete DiGeorge syndrome associated with CHD7 mutation.
    Sanka M; Tangsinmankong N; Loscalzo M; Sleasman JW; Dorsey MJ
    J Allergy Clin Immunol; 2007 Oct; 120(4):952-4. PubMed ID: 17931565
    [No Abstract]   [Full Text] [Related]  

  • 13. [Molecular diagnosis of CHARGE syndrom].
    Pedersen AM; Skovby F
    Ugeskr Laeger; 2007 Jan; 169(5):402-6. PubMed ID: 17280632
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The cerebro-hepato-renal syndrome of Zellweger: similarity to and differentiation from the DiGeorge syndrome.
    Hong R; Horowitz SD; Borzy MF; Gilbert EF; Arya S; McLeod N; Peterson RD
    Thymus; 1981 Aug; 3(2):97-104. PubMed ID: 7292577
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady.
    Shea YF; Lee CH; Gill H; Chow WS; Lam YM; Luk HM; Lam ST; Chu LW
    Chin Med J (Engl); 2012 Aug; 125(16):2945-7. PubMed ID: 22932096
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.
    Akalin I; Senses DA; Ilgin-Ruhi H; Misirlioğlu E; Yalçiner M; Cetinkaya E; Fryns JP; Tükün A
    Genet Couns; 2005; 16(2):145-8. PubMed ID: 16080293
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The 22q11.2 deletion syndrome: more answers but more questions.
    Fernhoff PM
    J Pediatr; 2000 Aug; 137(2):145-7. PubMed ID: 10931401
    [No Abstract]   [Full Text] [Related]  

  • 18. Unmasking of latent hypoparathyroidism in a child with partial DiGeorge syndrome by ethylenediaminetetraacetic acid infusion.
    Hasegawa T; Hasegawa Y; Yokoyama T; Koto S; Asamura S; Tsuchiya Y
    Eur J Pediatr; 1993 Apr; 152(4):316-8. PubMed ID: 8482280
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.
    Lichtner P; König R; Hasegawa T; Van Esch H; Meitinger T; Schuffenhauer S
    J Med Genet; 2000 Jan; 37(1):33-7. PubMed ID: 10633131
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 10p12.1 deletion: HDR phenotype without DGS2 features.
    Benetti E; Murer L; Bordugo A; Andreetta B; Artifoni L
    Exp Mol Pathol; 2009 Feb; 86(1):74-6. PubMed ID: 19022243
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.