DianaFitzpatrickMD

PubMed

• 31 citations
  Diagnosis and management of thyroid disease in pregnancy.
  Diana L. Fitzpatrick, Michelle A. Russell> ;Obstetrics and Gynecology Clinics of North America. 2010 Jun 1
• FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.
  Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton...> ;Am. J. Hum. Genet.. 2008-04-01
• 364 citations
  Natural History of Alkaptonuria
  Chanika Phornphutkul, Wendy J. Introne, Monique B. Perry, Isa Bernardini, Mark D. Murphey, Diana L. Fitzpatrick, Paul D. Anderson, Marjan Huizing, Yair Anikster, Lynn ...> ;The New England Journal of Medicine. 2002 Dec 26
• 41 citations
  Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.
  Wendy J. Introne, Chanika Phornphutkul, Isa Bernardini, Kevin McLaughlin, Diana L. Fitzpatrick, William A. Gahl> ;Molecular Genetics and Metabolism. 2002 Sep 1
• Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers.
  Brewer CM, Holloway SH, Stone DH, Carothers AD, FitzPatrick DR> ;J. Med. Genet.. 2002-09-01
• 56 citations
  Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.
  Yair Anikster, Marjan Huizing, Paul D. Anderson, Diana L. Fitzpatrick, Aharon Klar, Eva Gross-Kieselstein, Yackov Berkun, Gila Shazberg, William A. Gahl, Haggit Hurvitz> ;American Journal of Human Genetics. 2002 Aug 1
• 116 citations
  Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2
  Marjan Huizing, Charles D. Scher, Erin T. Strovel, Diana L. Fitzpatrick, Lisa M. Hartnell, Yair Anikster, William A. Gahl> ;Pediatric Research. 2002 Feb 1
• 69 citations
  Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
  Marjan Huizing, Yair Anikster, Diana L. Fitzpatrick, Anna B. Jeong, Maria D’Souza, Melanie Rausche, Jorge R. Toro, Muriel I. Kaiser-Kupfer, James G. White, William A. ...> ;American Journal of Human Genetics. 2001 Nov 1
• Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
  Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ> ;Am. J. Hum. Genet.. 2001-10-01
• 156 citations
  Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico
  Yair Anikster, Marjan Huizing, James G. White, Yuriy O. Shevchenko, Diana L. Fitzpatrick, Jeffrey W. Touchman, John G. Compton, Sherri J. Bale, Richard T. Swank, Willi...> ;Nature Genetics. 2001 Aug 1
• A locus for isolated cleft palate, located on human chromosome 2q32.
  Brewer CM, Leek JP, Green AJ, Holloway S, Bonthron DT, Markham AF, FitzPatrick DR> ;Am. J. Hum. Genet.. 1999-08-01
• The molecular basis of malonyl-CoA decarboxylase deficiency.
  FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J> ;Am. J. Hum. Genet.. 1999-08-01
• The gene for cherubism maps to chromosome 4p16.3.
  Mangion J, Rahman N, Edkins S, Barfoot R, Nguyen T, Sigurdsson A, Townend JV, Fitzpatrick DR, Flanagan AM, Stratton MR> ;Am. J. Hum. Genet.. 1999-07-01
• A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans.
  Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D> ;Am. J. Hum. Genet.. 1999-06-01
• A chromosomal deletion map of human malformations.
  Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D> ;Am. J. Hum. Genet.. 1998-10-01
• Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.
  Brewer CM, Lam WW, Hayward C, Grace E, Maher ER, FitzPatrick DR> ;J. Med. Genet.. 1998-02-01
• Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis.
  Bradshaw N, Brewer C, FitzPatrick D, Murray G, Rodgers F, Porteous M, Campbell H> ;Eur. J. Hum. Genet.. 1998-01-01
• Genomic instability associated with limb defects: case report and review of the literature.
  Brewer CM, Grace E, Stark GD, Gregory DW, Howell RT, Fitzpatrick DR> ;Clin. Dysmorphol.. 1997-04-01
• Late clinical and laboratory manifestations of thorotrast administration in cerebral arteriography. A follow-up study of thirty patients.
  Janower ML, Sidel VW, Baker WH, Fitzpatrick DE, Guarino FI, Flynn MJ> ;N. Engl. J. Med.. 1968-07-25
• Steroid therapy of hypercalcemia and renal insufficiency in sarcoidosis.
  PHILLIPS RW, FITZPATRICK DP> ;N. Engl. J. Med.. 1956-06-28
• Join now to see all