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163 results
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Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2.
Sharland M, Patton MA, Hill L. Sharland M, et al. Among authors: patton ma. Am J Med Genet. 1991 Jun 15;39(4):413-4. doi: 10.1002/ajmg.1320390410. Am J Med Genet. 1991. PMID: 1877619
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, Weedon MN, Rich P, Patton MA, Warner TT, Silver DL, Crosby AH. Alakbarzade V, et al. Among authors: patton ma. Nat Genet. 2015 Jul;47(7):814-7. doi: 10.1038/ng.3313. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005865
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.
Iype T, Alakbarzade V, Iype M, Singh R, Sreekantan-Nair A, Chioza BA, Mohapatra TM, Baple EL, Patton MA, Warner TT, Proukakis C, Kulkarni A, Crosby AH. Iype T, et al. Among authors: patton ma. BMC Med Genet. 2015 Nov 10;16:104. doi: 10.1186/s12881-015-0251-5. BMC Med Genet. 2015. PMID: 26554554 Free PMC article.
15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.
Tatton-Brown K, Pilz DT, Orstavik KH, Patton M, Barber JC, Collinson MN, Maloney VK, Huang S, Crolla JA, Marks K, Ormerod E, Thompson P, Nawaz Z, Lese-Martin C, Tomkins S, Waits P, Rahman N, McEntagart M. Tatton-Brown K, et al. Am J Med Genet A. 2009 Feb;149A(2):147-54. doi: 10.1002/ajmg.a.32534. Am J Med Genet A. 2009. PMID: 19133692
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci.
Heathcote K, Rajab A, Magré J, Syrris P, Besti M, Patton M, Délépine M, Lathrop M, Capeau J, Jeffery S. Heathcote K, et al. Diabetes. 2002 Apr;51(4):1291-3. doi: 10.2337/diabetes.51.4.1291. Diabetes. 2002. PMID: 11916958
Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.
Rajab A, Heathcote K, Joshi S, Jeffery S, Patton M. Rajab A, et al. Am J Med Genet. 2002 Jul 1;110(3):219-25. doi: 10.1002/ajmg.10437. Am J Med Genet. 2002. PMID: 12116229
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728
Genetic analysis of 20 families with autosomal dominant adult polycystic kidney disease from South West Thames Region.
Jeffery S, Saggar-Malik AK, Morgan S, Eastwood JB, Patton M. Jeffery S, et al. Clin Genet. 1995 Jun;47(6):290-4. doi: 10.1111/j.1399-0004.1995.tb03967.x. Clin Genet. 1995. PMID: 7554361
Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients.
Burch M, Sharland M, Shinebourne E, Smith G, Patton M, McKenna W. Burch M, et al. J Am Coll Cardiol. 1993 Oct;22(4):1189-92. doi: 10.1016/0735-1097(93)90436-5. J Am Coll Cardiol. 1993. PMID: 8409059
Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: growing evidence to support founder effects within CDG1 populations.
Crosby A, Jeffery S, Homfray T, Taylor R, Patton M. Crosby A, et al. Genet Test. 1999;3(3):305-7. doi: 10.1089/109065799316644. Genet Test. 1999. PMID: 10495932
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