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Journal Abstract Search

149 related items for PubMed ID: 2650935

  • 21. Radiological changes of frontometaphyseal dysplasia in the neonate.
    Nishimura G, Takano H, Aihara T, Ohashi H, Fukushima Y, Satoh M.
    Pediatr Radiol; 1995 Nov; 25 Suppl 1():S143-6. PubMed ID: 8577509
    [Abstract] [Full Text] [Related]

  • 22. [Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].
    Liang YT, Jiang HY, Fu HY.
    Zhongguo Dang Dai Er Ke Za Zhi; 2020 Oct; 22(10):1135-1137. PubMed ID: 33059814
    [Abstract] [Full Text] [Related]

  • 23. Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?
    Gjerulfsen CE, Møller RS, Fenger CD, Hammer TB, Bayat A.
    Eur J Med Genet; 2021 Jul; 64(7):104246. PubMed ID: 34020006
    [Abstract] [Full Text] [Related]

  • 24. Infantile glaucoma associated with cranio-cerebello-cardiac syndrome.
    Gupta G, Walton DS.
    J Pediatr Ophthalmol Strabismus; 2006 Jul; 43(4):244-5. PubMed ID: 16915906
    [Abstract] [Full Text] [Related]

  • 25. Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.
    Olney RS, Hoyme HE, Roche F, Ferguson K, Hintz S, Madan A.
    Am J Med Genet; 2001 Nov 01; 103(4):295-301. PubMed ID: 11746009
    [Abstract] [Full Text] [Related]

  • 26. 3C (cranio-cerebello-cardiac) syndrome: a recently delineated and easily recognizable congenital malformation syndrome.
    Hoo JJ, Kreiter M, Halverson N, Perszyk A.
    Am J Med Genet; 1994 Aug 01; 52(1):66-9. PubMed ID: 7977465
    [Abstract] [Full Text] [Related]

  • 27. Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome.
    Devriendt K, Thienen MN, Swillen A, Fryns JP.
    Dev Med Child Neurol; 1996 Oct 01; 38(10):949-53. PubMed ID: 8870617
    [Abstract] [Full Text] [Related]

  • 28. Anterior Fontanelle Wormian Bone With Exomphalos Major and Dysmorphic Facial Features: A Previously Unseen Association?
    Reid TH, Tam A, Antoniou G, Ong J.
    J Craniofac Surg; 2016 Oct 01; 27(7):1799-1801. PubMed ID: 27513767
    [Abstract] [Full Text] [Related]

  • 29. Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?
    Ritscher D, Schinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P.
    Am J Med Genet; 1987 Feb 01; 26(2):481-91. PubMed ID: 3812597
    [Abstract] [Full Text] [Related]

  • 30. Cerebellar hypoplasia, facial dysmorphism and internal abnormalities: a new recessive syndrome?
    Seller MJ, Pal K, Moscoso G, Nicolaides K, Hyett JA.
    Clin Dysmorphol; 1998 Jan 01; 7(1):41-4. PubMed ID: 9546829
    [Abstract] [Full Text] [Related]

  • 31. Lenz-Majewski syndrome.
    Gorlin RJ, Whitley CB.
    Radiology; 1983 Oct 01; 149(1):129-31. PubMed ID: 6611917
    [Abstract] [Full Text] [Related]

  • 32. Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.
    Rodgers J, Richmond CM, McGaughran J.
    Am J Med Genet A; 2022 Nov 01; 188(11):3324-3330. PubMed ID: 36073196
    [Abstract] [Full Text] [Related]

  • 33. First report of glaucoma as a feature of the 3C syndrome.
    Saraiva JM, Gama E, Pires MM, Sequeira JF.
    Clin Dysmorphol; 1995 Apr 01; 4(2):156-60. PubMed ID: 7606323
    [Abstract] [Full Text] [Related]

  • 34. Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
    Neri S, Maia N, Fortuna AM, Damasio J, Coale E, Willis M, Jorge P, Højte AF, Fenger CD, Møller RS, Bayat A.
    Eur J Med Genet; 2022 Nov 01; 65(11):104624. PubMed ID: 36130690
    [Abstract] [Full Text] [Related]

  • 35. 3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst.
    Sargar KM, Radmanesh A, Herman TE, Siegel MJ.
    J Perinatol; 2015 Mar 01; 35(3):233-4. PubMed ID: 25712599
    [No Abstract] [Full Text] [Related]

  • 36. Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion.
    Micheil Innes A.
    Clin Dysmorphol; 2005 Oct 01; 14(4):209-210. PubMed ID: 16155425
    [No Abstract] [Full Text] [Related]

  • 37. [Pelvis-shoulder dysplasia].
    Kosenow W, Niederle J, Sinios A.
    Fortschr Geb Rontgenstr Nuklearmed; 1970 Jul 01; 113(1):39-48. PubMed ID: 4994116
    [No Abstract] [Full Text] [Related]

  • 38. Short rib-polydactyly syndrome, Majewski type.
    Chen H, Yang SS, Gonzalez E, Fowler M, Al Saadi A.
    Am J Med Genet; 1980 Jul 01; 7(2):215-22. PubMed ID: 7468649
    [Abstract] [Full Text] [Related]

  • 39. Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians.
    Marles SL, Chodirker BN, Greenberg CR, Chudley AE.
    Am J Med Genet; 1995 May 08; 56(4):343-50. PubMed ID: 7604842
    [Abstract] [Full Text] [Related]

  • 40. Three new cases of the Schinzel-Giedion syndrome and review of the literature.
    Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M.
    Am J Med Genet; 1994 Mar 01; 50(1):90-3. PubMed ID: 8160760
    [Abstract] [Full Text] [Related]

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