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 *

151 related articles for article (PubMed ID: 8950678)

  • 1. Achondrogenesis type 1B.
    Superti-Furga A
    J Med Genet; 1996 Nov; 33(11):957-61. PubMed ID: 8950678
    [No Abstract]   [Full Text] [Related]  

  • 2. Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
    Rossi A; Bonaventure J; Delezoide AL; Cetta G; Superti-Furga A
    J Biol Chem; 1996 Aug; 271(31):18456-64. PubMed ID: 8702490
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
    Superti-Furga A; Hästbacka J; Wilcox WR; Cohn DH; van der Harten HJ; Rossi A; Blau N; Rimoin DL; Steinmann B; Lander ES; Gitzelmann R
    Nat Genet; 1996 Jan; 12(1):100-2. PubMed ID: 8528239
    [No Abstract]   [Full Text] [Related]  

  • 4. The boneless neonate: a severe form of achondrogenesis type I.
    Jaeger HJ; Schmitz-Stolbrink A; Hulde J; Novak M; Roggenkamp K; Mathias K
    Pediatr Radiol; 1994; 24(5):319-21. PubMed ID: 7824361
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Achondrogenesis. Ultrasonic diagnosis and clinical and anatomopathologic comparison].
    Mandjee D; Clément F; Belin M; Harter S; Clamaran E
    Rev Fr Gynecol Obstet; 1991 May; 86(5):391-6, 399-400. PubMed ID: 1871502
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype.
    Corsi A; Riminucci M; Fisher LW; Bianco P
    Arch Pathol Lab Med; 2001 Oct; 125(10):1375-8. PubMed ID: 11570921
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Fatal nanism: 3 different entities].
    Escrivá Tomás P; Clemente Yago F; López Peña LF; Cidras Pidre M; Orts Serrano F; Serrano Martínez JL; Jiménez Cobo B
    An Esp Pediatr; 1991 Apr; 34(4):305-9. PubMed ID: 2069281
    [TBL] [Abstract][Full Text] [Related]  

  • 8. New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias.
    Unger S; Le Merrer M; Meinecke P; Chitayat D; Rossi A; Superti-Furga A
    Pediatr Radiol; 2001 Dec; 31(12):893-4. PubMed ID: 11727031
    [No Abstract]   [Full Text] [Related]  

  • 9. [New subtype of familial achondrogenesis type IA (Houston-Harris)].
    Ramírez-García SA; García-Cruz D; Cervantes-Aragón I; Bitar-Alatorre WE; Dávalos-Rodríguez IP; Dávalos-Rodríguez NO; Corona-Rivera JR; Sánchez-Corona J
    Cir Cir; 2018; 86(1):89-98. PubMed ID: 29681641
    [TBL] [Abstract][Full Text] [Related]  

  • 10. First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia.
    Bellus GA; Escallon CS; Ortiz de Luna R; Shumway JB; Blakemore KJ; McIntosh I; Francomano CA
    Lancet; 1994 Nov; 344(8935):1511-2. PubMed ID: 7968151
    [No Abstract]   [Full Text] [Related]  

  • 11. Antenatal diagnosis of achondrogenesis type II.
    Kodandapani S; Ramkumar V
    JNMA J Nepal Med Assoc; 2009; 48(174):155-7. PubMed ID: 20387359
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Family with probable achondrogenesis and lipid inclusions in fibroblasts.
    Laxova R; Ohara PT; Ridler MA; Timothy JA
    Arch Dis Child; 1973 Mar; 48(3):212-6. PubMed ID: 4120916
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Sonographic diagnosis of a case of type 1 achondrogenesis in the 2d trimester].
    Schramm T; Nerlich A
    Geburtshilfe Frauenheilkd; 1989 Oct; 49(10):917-9. PubMed ID: 2684730
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sulphate transporter gene mutations in apparently isolated club foot.
    Huber C; Odent S; Rumeur S; Padovani P; Penet C; Cormier-Daire V; Munnich A; Le Merrer M
    J Med Genet; 2001 Mar; 38(3):191-3. PubMed ID: 11303514
    [No Abstract]   [Full Text] [Related]  

  • 15. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
    Superti-Furga A; Rossi A; Steinmann B; Gitzelmann R
    Am J Med Genet; 1996 May; 63(1):144-7. PubMed ID: 8723100
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Prenatal ultrasonic diagnosis of achondroplasia].
    Schlotter CM; Pfeiffer RA
    Ultraschall Med; 1985 Aug; 6(4):229-32. PubMed ID: 3903996
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Achondrogenesis in two sibs.
    Urso FP; Urso MJ
    Birth Defects Orig Artic Ser; 1974; 10(12):10-17. PubMed ID: 4477720
    [No Abstract]   [Full Text] [Related]  

  • 18. In utero diagnosis of achondrogenesis, type I.
    Smith WL; Breitweiser TD; Dinno N
    Clin Genet; 1981 Jan; 19(1):51-4. PubMed ID: 7460382
    [No Abstract]   [Full Text] [Related]  

  • 19. In utero sonographic diagnosis of achondrogenesis.
    Glenn LW; Teng SS
    J Clin Ultrasound; 1985; 13(3):195-8. PubMed ID: 3920282
    [No Abstract]   [Full Text] [Related]  

  • 20. Prenatal diagnosis of achondrogenesis.
    Jeeson UC; Prabhu S; Nambiar D
    Indian Pediatr; 1990 Feb; 27(2):190-3. PubMed ID: 2193886
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.