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Items: 1 to 20 of 86

1.

Genetics: Genotype-phenotype correlations in patients with CPR deficiency.

McLarnon A.

Nat Rev Endocrinol. 2012 Jan 17;8(3):128. doi: 10.1038/nrendo.2011.239. No abstract available.

PMID:
22249521
2.

Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea.

Kwon MJ, Yoo KY, Lee KO, Kim SH, Kim HJ.

Blood Coagul Fibrinolysis. 2011 Mar;22(2):102-5. doi: 10.1097/MBC.0b013e328343641a.

PMID:
21206266
3.

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.

Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T.

J Clin Endocrinol Metab. 2009 May;94(5):1723-31. doi: 10.1210/jc.2008-2816. Epub 2009 Mar 3.

PMID:
19258400
4.

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.

Sargent CA, Kidd A, Moore S, Dean J, Besley GT, Affara NA.

J Med Genet. 2000 Jun;37(6):434-41.

5.

Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.

Zhu T, Ye J, Han L, Qiu W, Zhang H, Liang L, Gu X.

Gene. 2013 Oct 15;529(1):80-7. doi: 10.1016/j.gene.2013.07.079. Epub 2013 Aug 7.

PMID:
23932990
6.

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.

Bricout M, Grévent D, Lebre AS, Rio M, Desguerre I, De Lonlay P, Valayannopoulos V, Brunelle F, Rötig A, Munnich A, Boddaert N.

J Med Genet. 2014 Jul;51(7):429-35. doi: 10.1136/jmedgenet-2013-102256. Epub 2014 May 1. Review.

PMID:
24793058
7.

[Accurate description of the phenotype: the clinician's contribution to the clarification of genotype-phenotype correlations].

Méhes K, Kosztolányi G.

Orv Hetil. 2006 Jun 11;147(23):1059-61. Review. Hungarian.

PMID:
16856507
8.

Clinical characteristics and genotype-phenotype correlations in C3 deficiency.

Okura Y, Kobayashi I, Yamada M, Sasaki S, Yamada Y, Kamioka I, Kanai R, Takahashi Y, Ariga T.

J Allergy Clin Immunol. 2016 Feb;137(2):640-644.e1. doi: 10.1016/j.jaci.2015.08.017. Epub 2015 Oct 4. No abstract available.

PMID:
26435005
9.

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS.

Am J Hum Genet. 1998 Oct;63(4):1049-59.

10.

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy PA, Adams DJ, Nichols M, Caggana M.

Mol Genet Metab. 2010 Mar;99(3):263-8. doi: 10.1016/j.ymgme.2009.10.188. Epub 2009 Nov 1.

PMID:
20036593
11.

Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.

Costa-Santos M, Kater CE, Auchus RJ; Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group.

J Clin Endocrinol Metab. 2004 Jan;89(1):49-60.

PMID:
14715827
12.

Unsquared genetic correlations.

Linn RL.

Psychol Bull. 1974 Mar;81(3):203-6. No abstract available.

PMID:
4856227
13.

Genetic drift. Physiologic noise obscures genotype-phenotype correlations.

Kellermayer R.

Am J Med Genet A. 2007 Jun 15;143A(12):1306-7. No abstract available.

PMID:
17506101
14.

Phenotype/genotype correlations in the ultrastructure of monogenetic glomerular diseases.

Liapis H, Foster K, Theodoropoulou E, Monga G, Pizzolitto S, Mazzucco G.

Ultrastruct Pathol. 2004 Jul-Aug;28(4):181-97. Review.

PMID:
15693630
15.

Final note on why genetic correlations are not squared.

Frank H.

Percept Mot Skills. 1972 Feb;34(1):233-4. No abstract available.

PMID:
5062393
16.

Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.

Ged C, Moreau-Gaudry F, Richard E, Robert-Richard E, de Verneuil H.

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):53-60. Review.

PMID:
19268002
17.

Variations in genotype-phenotype correlations in phenylketonuria patients.

Santos LL, Fonseca CG, Starling AL, Januário JN, Aguiar MJ, Peixoto MG, Carvalho MR.

Genet Mol Res. 2010 Jan 5;9(1):1-8. doi: 10.4238/vol9-1gmr670.

18.

PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations.

Ten Kate MK, Platteel M, Mulder R, Terpstra P, Nicolaes GA, Reitsma PH, van der Steege G, van der Meer J.

Hum Mutat. 2008 Jul;29(7):939-47. doi: 10.1002/humu.20687.

PMID:
18435454
19.

Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.

Elliott AM, Evans JA.

Am J Med Genet A. 2006 Jul 1;140(13):1419-27.

PMID:
16688749
20.

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.

Vela-Amieva M, Abreu-González M, González-del Angel A, Ibarra-González I, Fernández-Lainez C, Barrientos-Ríos R, Monroy-Santoyo S, Guillén-López S, Alcántara-Ortigoza MA.

Clin Genet. 2015 Jul;88(1):62-7. doi: 10.1111/cge.12444. Epub 2014 Jul 26.

PMID:
24941924

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