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    Marilyn Jones

    TitleProfessor Of Clinical
    SchoolUniversity of California, San Diego
    DepartmentPediatrics
    Address9300 Campus Point Drive #7768
    CA La Jolla 92037
    Phone858-966-5840
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      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones M, Ghedia S, Muenke M, Kruszka P. Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. Eur J Hum Genet. 2017 May 17. PMID: 28513610.
        View in: PubMed
      2. Marc-Aurele KL, Hull AD, Jones M, Pretorius DH. A fetal diagnostic center's referral rate for perinatal palliative care. Ann Palliat Med. 2017 May 04. PMID: 28595435.
        View in: PubMed
      3. Ho YK, Turley M, Marc-Aurele KL, Jones M, Housman E, Engelkemier D, Romine LE, Khanna PC, Pretorius DH. Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern. J Ultrasound Med. 2017 Aug; 36(8):1657-1668. PMID: 28417514.
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      4. Wigby K, Twigg SR, Broderick R, Davenport KP, Wilkie AO, Bickler SW, Jones M. Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn. Am J Med Genet A. 2017 Apr 06. PMID: 28386950.
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      5. Jones M, Topol SE, Rueda M, Oliveira G, Phillips T, Spencer EG, Torkamani A. Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder. Genet Med. 2017 Apr 06. PMID: 28383544.
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      6. Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones M, Wilkie AOM. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 Jun 02; 98(6):1256-1265. PMID: 27236920; PMCID: PMC4908219 [Available on 12/02/16].
      7. Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones M, Vaux KK, Gleeson JG. Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. Am J Med Genet A. 2016 Apr; 170A(4):992-8. PMID: 27001912; PMCID: PMC5011457.
      8. Overcash RT, Gibu CK, Jones M, Ramos GA, Andreasen TS. Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. Am J Med Genet A. 2015 Oct; 167A(10):2440-3. PMID: 26096958.
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      9. Boland BS, Widjaja CE, Banno A, Zhang B, Kim SH, Stoven S, Peterson MR, Jones M, Su HI, Crowe SE, Bui JD, Ho SB, Okugawa Y, Goel A, Marietta EV, Khosroheidari M, Jepsen K, Aramburu J, López-Rodríguez C, Sandborn WJ, Murray JA, Harismendy O, Chang JT. Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency. J Immunol. 2015 Mar 15; 194(6):2551-60. PMID: 25667416; PMCID: PMC4355235.
      10. Shah FT, French KS, Osann KE, Bocian M, Jones M, Korty L. Impact of Cell-Free Fetal DNA Screening on Patients' Choice of Invasive Procedures after a Positive California Prenatal Screen Result. J Clin Med. 2014 Jul 24; 3(3):849-64. PMID: 26237481; PMCID: PMC4449655.
      11. Pettit KE, Hull AD, Korty L, Jones M, Pretorius DH. The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: an institutional experience. J Perinatol. 2014 Oct; 34(10):750-3. PMID: 24875410.
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      12. Lu J, Vaidya N, Meng H, Dai Q, Romine LE, Jones M, Pretorius DH. Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. J Ultrasound Med. 2014 Jan; 33(1):167-76. PMID: 24371113.
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      13. Tarquinio DC, Jones M, Jones KL, Bird LM. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012 Nov; 158A(11):2672-81. PMID: 22887711.
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      14. Izumi K, Konczal LL, Mitchell AL, Jones M. Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review. J Pediatr. 2012 Apr; 160(4):645-650.e2. PMID: 22048048.
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      15. Rice KJ, Ballas J, Lai E, Hartney C, Jones M, Pretorius DH. Diagnosis of fetal limb abnormalities before 15 weeks: cause for concern. J Ultrasound Med. 2011 Jul; 30(7):1009-19. PMID: 21705735.
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      16. Ramos GA, Romine LE, Gindes L, Wolfson T, McGahan MC, D'Agostini D, Lee S, Jones M, Pretorius DH. Evaluation of the fetal secondary palate by 3-dimensional ultrasonography. J Ultrasound Med. 2010 Mar; 29(3):357-64. PMID: 20194932.
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      17. Willis MJ, Bird LM, Dell'Aquilla M, Jones M. Expanding the phenotype of mosaic trisomy 20. Am J Med Genet A. 2008 Feb 01; 146A(3):330-6. PMID: 18203170.
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      18. Moog U, Jones M, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15; 143A(24):2963-72. PMID: 18000987.
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      19. Williamson RE, Darrow KN, Michaud S, Jacobs JS, Jones M, Eberl DF, Maas RL, Liberman MC, Morton CC. Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis. Am J Med Genet A. 2007 Jul 15; 143A(14):1630-9. PMID: 17534888.
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      20. Pasco NY, Kikkawa DO, Korn BS, Punja KG, Jones M. Facial nerve paralysis: an unrecognized cause of lower eyelid entropion in the pediatric population. Ophthal Plast Reconstr Surg. 2007 Mar-Apr; 23(2):126-9. PMID: 17413627.
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      21. Willis MJ, Bird LM, Dell'aquilla M, Jones M. Natural history of prenatally diagnosed 46,X,isodicentric Y. Prenat Diagn. 2006 Feb; 26(2):134-7. PMID: 16463293.
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      22. Yoon G, Beischel LS, Johnson JP, Jones M. Dizygotic twin pregnancy conceived with assisted reproductive technology associated with chromosomal anomaly, imprinting disorder, and monochorionic placentation. J Pediatr. 2005 Apr; 146(4):565-7. PMID: 15812468.
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      23. Vaux KK, Jones M, Benirschke K, Bird LM, Jones KL. Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway? Am J Med Genet A. 2005 Jan 30; 132A(3):314-7. PMID: 15690378.
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      24. Vaux KK, Jones KL, Jones M, Schelley S, Hudgins L. Developmental outcome in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):263-4. PMID: 15523636.
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      25. Kosaki K, Bird LM, Maeda J, Higuchi M, Jones M, Matsumoto M. Marfanoid habitus with abnormal situs. Am J Med Genet A. 2004 Jun 15; 127A(3):310-2. PMID: 15150786.
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      26. Jones M. Prenatal diagnosis of cleft lip and palate: detection rates, accuracy of ultrasonography, associated anomalies, and strategies for counseling. Cleft Palate Craniofac J. 2002 Mar; 39(2):169-73. PMID: 11879073.
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      27. Gripp KW, Scott CI, Nicholson L, McDonald-McGinn DM, Ozeran JD, Jones M, Lin AE, Zackai EH. Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet. 2002 Feb 15; 108(1):80-7. PMID: 11857556.
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      28. Del Campo M, Jones M, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W. Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. Am J Hum Genet. 1999 Jul; 65(1):104-10. PMID: 10364522; PMCID: PMC1378080.
      29. Jones M. Prenatal diagnosis of cleft lip and palate: experiences in Southern California. Cleft Palate Craniofac J. 1999 Mar; 36(2):107-9. PMID: 10213055.
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      30. Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones M, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR. Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer Res. 1998 Jul 01; 58(13):2724-6. PMID: 9661881.
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      31. Zigman AF, Lavine JE, Jones M, Boland CR, Carethers JM. Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. Gastroenterology. 1997 Nov; 113(5):1433-7. PMID: 9352843.
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      32. Bird LM, Pretorius DH, Mendoza AE, Jones M. Anencephaly with holoprosencephalic facies due to ring chromosome 18. Clin Dysmorphol. 1997 Oct; 6(4):351-8. PMID: 9354845.
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      33. McGinniss MJ, Brown DH, Burke LW, Mascarello JT, Jones M. Ring chromosome X in a child with manifestations of Kabuki syndrome. Am J Med Genet. 1997 May 02; 70(1):37-42. PMID: 9129739.
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      34. Kosaki K, Jones M, Stayboldt C. Zimmer phocomelia: delineation by principal coordinate analysis. Am J Med Genet. 1996 Dec 02; 66(1):55-9. PMID: 8957512.
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      35. Bird LM, Billman GF, Lacro RV, Spicer RL, Jariwala LK, Hoyme HE, Zamora-Salinas R, Morris C, Viskochil D, Frikke MJ, Jones M. Sudden death in Williams syndrome: report of ten cases. J Pediatr. 1996 Dec; 129(6):926-31. PMID: 8969740.
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      36. Bird LM, Jones M, Kuppermann N, Huskins WC. Gram-negative bacteremia in four patients with Klippel-Trenaunay-Weber syndrome. Pediatrics. 1996 May; 97(5):739-41. PMID: 8628620.
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      37. Penny LA, Dell'Aquila M, Jones M, Bergoffen J, Cunniff C, Fryns JP, Grace E, Graham JM, Kousseff B, Mattina T. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet. 1995 Mar; 56(3):676-83. PMID: 7887422; PMCID: PMC1801184.
      38. Braddock SR, Jones KL, Bird LM, Villegas I, Jones M. Anterior cervical hypertrichosis: a dominantly inherited isolated defect. Am J Med Genet. 1995 Feb 13; 55(4):498-9. PMID: 7762594.
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      39. Bird LM, Krous HF, Eichenfield LF, Swalwell CI, Jones M. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? Am J Med Genet. 1994 Nov 01; 53(2):141-8. PMID: 7856638.
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      40. Bird LM, Newbury RO, Ruiz-Velasco R, Jones M. Recurrence of diaphragmatic agenesis associated with multiple midline defects: evidence for an autosomal gene regulating the midline. Am J Med Genet. 1994 Oct 15; 53(1):33-8. PMID: 7802033.
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      41. Taylor CL, Jones KL, Jones M, Kaplan GW. Incidence of renal anomalies in children prenatally exposed to ethanol. Pediatrics. 1994 Aug; 94(2 Pt 1):209-12. PMID: 8036075.
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      42. Moore JW, Wight NE, Jones M, Krous HF. Truncus arteriosus associated with trisomy 18. Pediatr Cardiol. 1994 May-Jun; 15(3):154-6. PMID: 8047500.
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      43. Mascarello JT, Jones M, Catanzarite VA, Brown KH. Mosaic triple trisomy in amniocytes from a phenotypically and karyotypically normal fetus. Prenat Diagn. 1994 Mar; 14(3):163-5. PMID: 8052562.
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      44. Jones M. Facial clefting. Etiology and developmental pathogenesis. Clin Plast Surg. 1993 Oct; 20(4):599-606. PMID: 8275626.
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      45. Braddock SR, Jones KL, Superneau DW, Jones M. Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome. Am J Med Genet. 1993 Oct 01; 47(5):640-3; discussion 644. PMID: 8266990.
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      46. Weyerts LK, Jones M, Grafe M, Scioscia AL. Umbilical cord haemangioma associated with an eruptive cutaneous haemangioma in a female infant. Prenat Diagn. 1993 Jan; 13(1):61-4. PMID: 8446571.
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      47. Weyerts LK, Jones M, James HE. Paraplegia and congenital contractures as a consequence of intrauterine trauma. Am J Med Genet. 1992 Jul 01; 43(4):751-2. PMID: 1621769.
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      48. Freidenberg GR, Cutler DL, Jones M, Hall B, Mier RJ, Culler F, Jones KL, Lozzio C, Kaufmann S. Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia. Am J Dis Child. 1992 Jan; 146(1):93-9. PMID: 1736653.
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      49. Mascarello JT, Jones M, Kadota RP, Krous HF. Hepatoblastoma characterized by trisomy 20 and double minutes. Cancer Genet Cytogenet. 1990 Jul 15; 47(2):243-7. PMID: 2162734.
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      50. Feldman JI, Kearns DB, Seid AB, Pransky SM, Jones M. The otolaryngologic manifestations of Pelizaeus-Merzbacher disease. Arch Otolaryngol Head Neck Surg. 1990 May; 116(5):613-6. PMID: 2328119.
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      51. Jones M. The neurocristopathies: reinterpretation based upon the mechanism of abnormal morphogenesis. Cleft Palate J. 1990 Apr; 27(2):136-40. PMID: 2187633.
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      52. Cunniff C, Jones KL, Jones M. Patterns of malformation in children with congenital diaphragmatic defects. J Pediatr. 1990 Feb; 116(2):258-61. PMID: 2299497.
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      53. Wulfsberg EA, Weaver RP, Cunniff CM, Jones M, Jones KL. Chromosome 10qter deletion syndrome: a review and report of three new cases. Am J Med Genet. 1989 Mar; 32(3):364-7. PMID: 2658586.
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      54. Mascarello JT, Bastian JF, Jones M. Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequence. Am J Med Genet. 1989 Jan; 32(1):112-4. PMID: 2705472.
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      55. Cunniff C, Jones KL, Jones M, Saunders B, Shepard T, Benirschke K. Laterality defects in conjoined twins: implications for normal asymmetry in human embryogenesis. Am J Med Genet. 1988 Nov; 31(3):669-77. PMID: 3228146.
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      56. Jones M. Etiology of facial clefts: prospective evaluation of 428 patients. Cleft Palate J. 1988 Jan; 25(1):16-20. PMID: 3422594.
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