BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 12910496)

  • 21. Stuve-Wiedemann syndrome: is it underrecognized?
    Yeşil G; Lebre AS; Santos SD; Güran O; Özahi II; Daire VC; Güran T
    Am J Med Genet A; 2014 Sep; 164A(9):2200-5. PubMed ID: 24988918
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Fibrochondrogenesis: clinical and radiological features.
    al-Gazali LI; Bakalinova D; Bakir M; Dawodu A
    Clin Dysmorphol; 1997 Apr; 6(2):157-63. PubMed ID: 9134297
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
    Jung C; Dagoneau N; Baujat G; Le Merrer M; David A; Di Rocco M; Hamel B; Mégarbané A; Superti-Furga A; Unger S; Munnich A; Cormier-Daire V
    Clin Genet; 2010 Mar; 77(3):266-72. PubMed ID: 20447141
    [TBL] [Abstract][Full Text] [Related]  

  • 24. The orthopaedic manifestations and management of children with Stuve-Wiedemann syndrome.
    Hassan A; Whately C; Letts M
    J Bone Joint Surg Br; 2010 Jun; 92(6):880-4. PubMed ID: 20513889
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features.
    Al-Gazali LI; Ravenscroft A; Feng A; Shubbar A; Al-Saggaf A; Haas D
    Clin Dysmorphol; 2003 Jan; 12(1):1-8. PubMed ID: 12514358
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Spondylometaphyseal dysplasia, Sedaghatian type.
    Peeden JN; Rimoin DL; Lachman RS; Dyer ML; Gerard D; Gruber HE
    Am J Med Genet; 1992 Nov; 44(5):651-6. PubMed ID: 1481828
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Grebe syndrome: a very severely affected case.
    Kulkarni ML; Kumar B; Nasser A; Kulkarni BM
    J Med Genet; 1995 Apr; 32(4):326-7. PubMed ID: 7643372
    [No Abstract]   [Full Text] [Related]  

  • 28. The Schwartz-Jampel syndrome.
    al Gazali LI
    Clin Dysmorphol; 1993 Jan; 2(1):47-54. PubMed ID: 8298738
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.
    Al-Gazali LI; Varghese M; Varady E; Al Talabani J; Scorer J; Bakalinova D
    J Med Genet; 1996 Mar; 33(3):203-11. PubMed ID: 8728692
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Anesthesia for Stüve-Wiedemann syndrome: a rare adult patient case report.
    Artilheiro V; Portela F; Reis AT
    J Appl Genet; 2020 Dec; 61(4):571-573. PubMed ID: 32910413
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Stüve-Wiedemann syndrome with multiple eruptive vellus hair cysts and clefted tongue.
    Lobato-Berezo A; Tormo-Mainar S; Pujol RM
    Pediatr Dermatol; 2020 Mar; 37(2):381-382. PubMed ID: 31975458
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A new lethal autosomal recessive skeletal dysplasia with associated dysmorphic features.
    Morton JE; Kilby MD; Rushton I
    Clin Dysmorphol; 1998 Apr; 7(2):109-14. PubMed ID: 9571280
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Rhabdomyolysis in Stuve-Wiedemann syndrome.
    Ramdeny PS; Powell C; Chakraborty M; Hartley L
    BMJ Case Rep; 2018 Feb; 2018():. PubMed ID: 29437806
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Case Report: Stüve-Wiedemann syndrome-a rare cause of persistent pulmonary hypertension of the newborn.
    Jin J; Rothämel P; Büchel J; Kammer B; Brunet T; Pattathu J; Flemmer AW; Nussbaum C; Schroepf S
    Front Pediatr; 2023; 11():1329404. PubMed ID: 38239591
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
    Dagoneau N; Scheffer D; Huber C; Al-Gazali LI; Di Rocco M; Godard A; Martinovic J; Raas-Rothschild A; Sigaudy S; Unger S; Nicole S; Fontaine B; Taupin JL; Moreau JF; Superti-Furga A; Le Merrer M; Bonaventure J; Munnich A; Legeai-Mallet L; Cormier-Daire V
    Am J Hum Genet; 2004 Feb; 74(2):298-305. PubMed ID: 14740318
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia.
    Odent S; Loget P; Le Marec B; Delezoïde AL; Maroteaux P
    J Med Genet; 1999 Apr; 36(4):330-2. PubMed ID: 10227404
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome.
    Chen E; Cotter PD; Cohen RA; Lachman RS
    Am J Med Genet; 2001 Jul; 101(3):240-5. PubMed ID: 11424139
    [TBL] [Abstract][Full Text] [Related]  

  • 38. New insights in congenital bowing of the femora.
    Cormier-Daire V; Geneviève D; Munnich A; Le Merrer M
    Clin Genet; 2004 Sep; 66(3):169-76. PubMed ID: 15324311
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia.
    Di Rocco M; Stella G; Bruno C; Doria Lamba L; Bado M; Superti-Furga A
    Am J Med Genet A; 2003 May; 118A(4):362-8. PubMed ID: 12687669
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents.
    Nishimura G; Nakayama M; Fuke Y; Suehara N
    Pediatr Radiol; 1998 Jan; 28(1):43-7. PubMed ID: 9426272
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.