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Number of items: 99.

A

Achermann, JC; (2001) Highlights of the 6th Joint Meeting of the European Society for Paediatric Endocrinology (ESPE) & Lawson Wilkins Pediatric Endocrinology Society (LWPES). Highlights , 9 (3) 1 - 16.

Achermann, JC; (2001) The molecular genetics of hypogonadotropic hypogonadism. Clin Pediatr Endocrinol , 10 (16) 21 - 30.

Achermann, JC; Ito, M; Silverman, BL; Habiby, RL; Pang, S; Rosler, A; Jameson, JL; (2001) Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. The Journal of Clinical Endocrinology & Metabolism , 86 (7) 3171 - 3175. 10.1210/jc.86.7.3171. Green open access
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Achermann, JC; Jameson, JL; (2001) Advances in the molecular genetics of hypogonadotropic hypogonadism. J PEDIATR ENDOCR MET , 14 (1) 3 - 15.

Achermann, JC; Meeks, JJ; Jameson, JL; (2001) Phenotypic spectrum of mutations in DAX-1 and SF-1. MOLECULAR AND CELLULAR ENDOCRINOLOGY , 185 (1-2) 17 - 25.

Achermann, JC; Meeks, JJ; Jeffs, B; Das, U; Clayton, PE; Brook, CGD; Jameson, JL; (2001) Molecular and structural analysis of two novel STAR mutations in patients with lipoid congenital adrenal hyperplasia. MOL GENET METAB , 73 (4) 354 - 357. 10.1006/mgme.2001.3202.

Achermann, JC; Silverman, BL; (2001) Dehydroepiandrosterone replacement for patients with adrenal insufficiency. LANCET , 357 (9266) 1381 - 1382.

Achermann, JC; Weiss, J; Lee, EJ; Jameson, JL; (2001) Inherited disorders of the gonadotropin hormones. MOLECULAR AND CELLULAR ENDOCRINOLOGY , 179 (1-2) 89 - 96.

Al-Shaikh, HAJ; Brook, CGD; Hindmarsh, PC; (2001) Evaluation of the combination of GnRH and HCG tests in differentiating constitutional delay of growth and puberty from hypogonadotropic hypogonadism in males. ANN SAUDI MED , 21 (3-4) 230 - 233. Gold open access

Albanese, A; Hindmarsh, P; Stanhope, R; (2001) Management of hyponatraemia in patients with acute cerebral insults. Archives of Disease in Childhood , 85 (3) 246 - 251.

B

Bahadur, G; Hindmarsh, P; Ralph, D; (2001) Fertility Preservation in children - scientific advances, research dilemmas, and ethics of consent. Archives of Disease in Childhood , 85 (5) 442 - ?.

Bahadur, G; Ralph, D; Hindmarsh, P; (2001) Clarification of consent. Fertility and Sterility , 76 (4) 852 - 853.

Bahadur, G; Ralph, D; Hindmarsh, P; (2001) Clarification of consent. Fertility and Sterility , 76 (4) 853 - 853.

Bahadur, G; Whelan, J; Ralph, D; Hindmarsh, P; (2001) Adolescent cancer patients sperm storage, consent and emotion. Human Reproduction , 16 (11) 2474 - ?.

Bahadur, G; Whelan, J; Ralph, D; Hindmarsh, P; (2001) Gaining consent to freeze sperm from adolescents with cancer: legal, ethical and practical aspects. Human Reproduction , 16 (1) 188 - 193.

Bentley, L; Monk, D; Smith, E; Edmonds, R; Hitchins, M; Preece, MA; ... Moore, GE; + view all (2001) Analysis of imprinting in the Silver Russell Syndrome candidate gene region at 7q31-qter. In: The American Journal of Human Genetics. (pp. A2282 - A2282).

Bentley, L; Monk, D; Smith, E; Edmonds, R; Hitchins, M; Preece, MA; ... Moore, GE; + view all (2001) Analysis of imprinting in the Silver Russell Syndrome candidate gene region at 7q31-qter. In: AM J HUM GENET. (pp. 570 - 570). UNIV CHICAGO PRESS

Bork, JM; Peters, LM; Riazuddin, S; Bernstein, SL; Ahmed, ZM; Ness, SL; ... Morell, RJ; + view all (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. AM J HUM GENET , 68 (1) 26 - 37.

Braybrook, C; Doudney, K; Marcano, ACB; Arnason, A; Bjornsson, A; Patton, MA; ... Stanier, P; + view all (2001) Identification and mutation screening of candidate genes for X-linked cleft palate and ankyloglossia (CPX). In: The American Journal of Human Genetics. (pp. A2606 - A2606).

Braybrook, C; Doudney, K; Marcano, ACB; Arnason, A; Bjornsson, A; Patton, MA; ... Stanier, P; + view all (2001) Identification and mutation screening of candidate genes for X-linked cleft palate and ankyloglossia (CPX). In: AM J HUM GENET. (pp. 624 - 624). UNIV CHICAGO PRESS

Braybrook, C; Doudney, K; Marcano, ACB; Arnason, A; Bjornsson, A; Patton, MA; ... Stanier, P; + view all (2001) The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. NAT GENET , 29 (2) 179 - 183.

Braybrook, C; Warry, G; Howell, G; Arnason, A; Bjornsson, A; Moore, GE; ... Stanier, P; + view all (2001) Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and ankyloglossia (CPX) critical region. GENOMICS , 72 (2) 128 - 136.

Braybrook, C; Warry, G; Howell, G; Mandryko, V; Arnason, A; Bjornsson, A; ... Stanier, P; + view all (2001) Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. HUM GENET , 108 (6) 537 - 545.

Brealey, DA; Brand, MP; Greaves, IH; Heales, SJR; Land, JM; Singer, M; (2001) Septic shock and mitochondrial dysfunction. BRIT J ANAESTH , 87 (2) 340P - 340P.

Brickman, JM; Clements, M; Tyrell, R; McNay, D; Woods, K; Warner, J; ... Dattani, M; + view all (2001) Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders. DEVELOPMENT , 128 (24) 5189 - 5199. Green open access
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C

Canevari, L; Clark, JB; Heales, SJR; (2001) Oxidative stress in tetrahydrobiopterin deficiency. J NEUROCHEM , 78 91 - 91.

Carrel, T; Herman, GE; Moore, GE; Stanier, P; (2001) Lack of mutations in ZIC3 in three families with neural tube defects. AM J MED GENET , 98 (3) 283 - 285.

Cerone, M; Schwartz, PJ; Priori, SG; Spazzlooni, C; Denjoy, I; Guicheny, P; ... Napolitano, C; + view all (2001) Natural history and genetic aspects of the Jervell and Lange-Nielsen syndrome. In: Circulation. (pp. 2193 - ?).

Cerrone, M; Schwartz, PJ; Priori, SG; Spazzolini, C; Denjoy, I; Guicheney, P; ... Napolitano, C; + view all (2001) Natural history and genetic aspects of the Jervell and Lange-Nielsen syndrome. CIRCULATION , 104 (17) 462 - 462.

Charmandari, E; Dattani, MT; Perry, LA; Hindmarsh, PC; Brook, CGD; (2001) Kinetics and effect of percutaneous administration of dihydrotestosterone in children. HORM RES , 56 (5-6) 177 - 181.

Charmandari, E; Hindmarsh, PC; Johnston, A; Brook, CGD; (2001) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Alterations in cortisol pharmacokinetics at puberty. J CLIN ENDOCR METAB , 86 (6) 2701 - 2708.

Charmandari, E; Johnston, A; Brook, CGD; Hindmarsh, PC; (2001) Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J ENDOCRINOL , 169 (1) 65 - 70.

Charmandari, E; Lichtarowicz-Krynska, EJ; Hindmarsh, PC; Johnston, A; Aynsley-Green, A; Brook, CGD; (2001) Congenital adrenal hyperplasia: management during critical illness. ARCH DIS CHILD , 85 (1) 26 - 28.

Charmandari, E; Matthews, DR; Johnston, A; Brook, CGD; Hindmarsh, PC; (2001) Serum cortisol and 17-hydroxyprogesgterone interrelation in classic 21-hydroxylase deficiency: Is current replacement therapy satisfactory? J CLIN ENDOCR METAB , 86 (10) 4679 - 4685.

Charmandari, E; Pincus, SM; Matthews, DR; Dennison, E; Fall, CHD; Hindmarsh, PC; (2001) Joint growth hormone and cortisol spontaneous secretion is more asynchronous in older females than in their male counterparts. J CLIN ENDOCR METAB , 86 (7) 3393 - 3399.

Chudleigh, PM; Chitty, LS; Pembrey, M; Campbell, S; (2001) The association of aneuploidy and mild fetal pyelectasis in an unselected population: the results of a multicenter study. Ultrasound Obstet.Gynecol. , 17 (3) 197 - 202.

Clayton, PT; (2001) Applications of mass spectrometry in the study of inborn errors of metabolism. JOURNAL OF INHERITED METABOLIC DISEASE , 24 (2) 139 - 150.

Clayton, PT; (2001) Clinical consequences of defects in peroxisomal beta-oxidation. BIOCHEMICAL SOCIETY TRANSACTIONS , 29 298 - 305.

Clayton, PT; Eaton, S; Aynsley-Green, A; Edginton, M; Hussain, K; Krywawych, S; ... van den Berg, IE; + view all (2001) Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest , 108 (3) 457 - 465. 10.1172/JCI11294.

Clayton, PT; Eaton, S; Aynsley-Green, A; Edginton, M; Hussain, K; Krywawych, S; ... van den Berg, IET; + view all (2001) Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J CLIN INVEST , 108 (3) 457 - 465. Green open access
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Cosentino, F; Barker, JE; Brand, MP; Heales, SJ; Werner, ER; Tippins, JR; ... Lüscher, TF; + view all (2001) Reactive oxygen species mediate endothelium-dependent relaxations in tetrahydrobiopterin-deficient mice. Arterioscler Thromb Vasc Biol , 21 (4) 496 - 502.

D

Dattani, MT; (2001) Septo-optic dysplasia: From mouse to man. Clinical Pediatric Endocrinology , 10 (1) 89 - 95. 10.1297/cpe.10.89. Gold open access

G

Gambling, L; Danzeisen, R; Gair, S; Lea, RG; Charania, Z; Solanky, N; ... McArdle, HJ; + view all (2001) Effect of iron deficiency on placental transfer of iron and expression of iron transport <i>in vivo</i> and <i>in vitro</i>. Biochemical Journal , 356 883 - 889.

Gegg, M; Beltran, B; Moncada, S; Clark, JB; Heales, SJR; (2001) Elevation of glutathione in astrocytes exposed to nitric oxide. In: J NEUROCHEM. (pp. 88 - 88). BLACKWELL SCIENCE LTD

Gegg, M; Clark, JB; Heales, SJR; (2001) Mitochondrial function and glutathione status in astrocytes. In: J NEUROCHEM. (pp. 22 - 22). BLACKWELL SCIENCE LTD

Gissen, P; Chakrapani, A; Wraith, JE; Walter, JH; Leonard, JV; Buckels, J; ... McKiernan, PJ; + view all (2001) Long-term survival post early liver transplantation in organic acidaemias. HEPATOLOGY , 34 (4) 503A - 503A.

Graf, D; Fisher, AG; Merkenschlager, M; Timmons, PM; Episkopou, V; Hitchins, M; ... Ito, T; + view all (2001) Evolutionary conservation, developmental expression, and genomic mapping of mammalian Twisted gastrulation. Mammalian Genome , 12 (7) 554 - 560. 10.1007/s0033501-0005-x.

H

Hargreaves, I; Rahman, S; Guthrie, P; Leonard, J; Land, J; Heales, S; (2001) The diagnostic value of complex II determination in the identification of patients with mitochondrial DNA depletion. In: Journal of Inherited Metabolic Disease. (pp. 79 - ?).

Heales, SJR; (2001) Catalase deficiency, diabetes, and mitochondrial function. LANCET , 357 (9252) 314 - 314.

Heales, SJR; (2001) Impairment of energy production in brain mitochondria by glutathione deprivation and nitric oxide production. J NEUROCHEM , 78 120 - 120.

Hindmarsh, PC; (2001) The European training syllabus in paediatric endocrinology and diabetes. HORM RES , 56 (5-6) 188 - 204.

Hitchins, MP; Monk, D; Bell, GM; Ali, Z; Preece, MA; Stanier, P; Moore, GE; (2001) Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB70 in Silver-Russell syndrome. EUR J HUM GENET , 9 (2) 82 - 90.

Hitchins, MP; Stanier, P; Preece, MA; Moore, GE; (2001) Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J MED GENET , 38 (12) 810 - 819.

Houseman, MJ; Ellis, LA; Pagnamenta, A; Di, WL; Rickard, S; Osborn, AH; ... Kelsell, DP; + view all (2001) Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J MED GENET , 38 (1) 20 - 25.

Huang, LQ; Bitner-Glindzicz, M; Tranebjaerg, L; Tinker, A; (2001) A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. CARDIOVASC RES , 51 (4) 670 - 680.

Hutchin, TP; Thompson, KR; Parker, M; Newton, V; Bitner-Glindzicz, M; Mueller, RF; (2001) Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment. J MED GENET , 38 (4) 229 - 231.

Hutchin, TP; Thompson, KR; Parker, M; Newton, V; Bitner-Glindzicz, M; Muller, RF; (2001) Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment. In: 38. (pp. 231 - ?).

J

Jacobson, J; Duchen, MR; Clark, JB; Heales, SJR; (2001) Assay of mitochondrial cardiolipin content in cortical astrocytes. J NEUROCHEM , 78 25 - 25.

K

Kassem, SA; Ariel, I; Thornton, PS; Hussain, K; Smith, V; Lindley, KJ; ... Glaser, B; + view all (2001) p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy. DIABETES , 50 (12) 2763 - 2769.

Kassem, SA; Glaser, B; Ariel, I; Thornton, PS; Hussain, K; Smith, V; ... Aynsley-Green, A; + view all (2001) p57 expression in normal islet cells and in hyperinsulinism of infancy. Diabetes , 50 (12) 2763 - 2769.

Kelberman, D; Tyson, J; Chandler, DC; McInerney, A; Slee, J; Calvert, M; ... Bitner-Glindzicz, M; + view all (2001) Genetic heterogeneity in hemifacial microsomia: evidence for three loci at 14q32, 2q35 and 11q12-q13. In: AM J HUM GENET. (pp. 514 - 514). UNIV CHICAGO PRESS

Kelberman, D; Tyson, J; Chandler, DC; McInerney, AM; Slee, J; Albert, D; ... Bitner-Glindzicz, M; + view all (2001) Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. HUM GENET , 109 (6) 638 - 645.

Kinsler, VA; Aylett, SE; Coley, SC; Chong, WK; Atherton, DJ; (2001) Central nervous system imaging and congenital melanocytic naevi. Arch Dis Child , 84 (2) 152 - 155.

L

Land, JM; Heales, SJ; Hargreaves, IP; (2001) Long walks and dark urine. In: Freedman, DB and Hooper, J and Wood, PJ and Worthington, DJ and Price, CP, (eds.) Challenges at the clinical interface: case histories for clinical biochemists. (185 - 189). AACC Press: Washington, DC.

Leonard, J; Grünewald, S; Clayton, P; (2001) Diversity of congenital disorders of glycosylation. Lancet , 357 (9266) 1382 - 1383. 10.1016/S0140-6736(00)04618-3.

Liu, XZ; Blanton, SH; Bitner-Glindzicz, M; Pandya, A; Landa, B; MacArdle, B; ... Nance, WE; + view all (2001) Haplotype analysis of the USH1D locus and genotype-phenotype correlations. CLIN GENET , 60 (1) 58 - 62.

M

Mergenthaler, S; Hitchins, MP; Blagitko-Dorfs, N; Monk, D; Wollmann, HA; Ranke, MB; ... Moore, GE; + view all (2001) Conflicting reports of imprinting status of human GRB10 in developing brain: How reliable are somatic cell hybrids for predicting allelic origin of expression? AM J HUM GENET , 68 (2) 543 - 544.

Mills, K; Mills, PB; Clayton, PT; Johnson, AW; Whitehouse, DB; Winchester, BG; (2001) Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology. CLIN CHEM , 47 (11) 2012 - 2022.

Mills, P; Mills, K; Clayton, P; Johnson, A; Whitehouse, D; Winchester, B; (2001) Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation. BIOCHEM J , 359 249 - 254.

Mills, PB; Mills, K; Johnson, AW; Clayton, PT; Winchester, BG; (2001) Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translational modifications of alpha 1-antitrypsin isoforms separated by two-dimensional polyacrylamide gel electrophoresis. Proteomics , 1 (6) 778 - 786. 10.1002/1615-9861(200106)1:6<778::AID-PROT778>3.0.CO;2-H.

Monk, D; Hitchens, M; Ismail, I; Temple, K; Sharp, A; Clayton-Smith, J; ... Moore, GE; + view all (2001) Detailed FISH analysis of Silver-Russell syndrome (SRS) patients with cytogenetic disruption of chromosome 7p11.2-p13 define a candidate region for SRS. In: Genetical Research. (pp. 194 - 194).

Monk, D; Hitchins, M; Russo, S; Preece, M; Stanier, P; Moore, GE; (2001) No evidence for mosaicism in Silver-Russell syndrome. Journal of medical genetics , 38 (4)

Moore, GE; Abu-Amero, SN; Bell, G; Wakeling, EL; Kingsnorth, A; Stanier, P; ... Bennett, ST; + view all (2001) Evidence that insulin is imprinted in the human yolk sac. DIABETES , 50 (1) 199 - 203.

Moore, GE; Abu-Ameru, S; Bell, G; Wakeling, EL; Wilson, A; Stanier, P; ... Bennett, ST; + view all (2001) Insulin is imprinted in the human yolk sac. Diabetes , 50 199 - 203.

O

Olpin, SE; Allen, J; Bonham, JR; Clark, S; Downing, M; Manning, NJ; ... Tanner, MS; + view all (2001) Features of carnitine palmitoyltransferase type I deficiency. Journal of Inherited Metabolic Disease , 24 (1) 35 - 42. 10.1023/A:1005694320063.

P

Pope, SAS; Burtin, GE; Clayton, PT; Madge, DJ; Muller, DPR; (2001) New synthesis of (+/-)-alpha-CMBHC and its confirmation as a metabolite of alpha-tocopherol (Vitamin E). BIOORGAN MED CHEM , 9 (5) 1337 - 1343.

R

Rahman, S; Besley, G; Carbone, M; Robinson, B; Clayton, P; (2001) Benign pyruvate carboxylase deficiency with normal development. In: Journal of Inherited Metabolic Disease. (pp. 88 - ?).

Rahman, S; Brown, RM; Chong, WK; Wilson, CJ; Brown, GK; (2001) A SURF1 gene mutation presenting as isolated leukodystrophy. Ann Neurol , 49 (6) 797 - 800.

Rahman, S; Hargreaves, I; Clayton, P; Heales, S; (2001) Neonatal presentation of coenzyme Q10 deficiency. J Pediatr , 139 (3) 456 - 458. 10.1067/mpd.2001.117575.

Rahman, S; Poulton, J; Marchington, D; Suomalainen, A; (2001) Decrease of 3243 A -> G mtDNA mutation from blood in MELAS syndrome: A longitudinal study. AMERICAN JOURNAL OF HUMAN GENETICS , 68 (1) 238 - 240. 10.1086/316930.

Rickard, S; Kelsell, DP; Sirimana, T; Rajput, K; MacArdle, B; Bitner-Glindzicz, M; (2001) Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J MED GENET , 38 (8) 530 - 533.

Rickard, S; Parker, M; van't Hoff, W; Barnicoat, A; Russell-Eggitt, I; Winter, RM; Bitner-Glindzicz, M; (2001) Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum Genet , 108 (5) 398 - 403.

Rickard, S.; Kelsell, D.P.; Sirimana, T.; Rajput, K.; MacArdle, B.; Bitner-Glindzicz, M.; (2001) Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. Journal of Medical Genetics , 38 (8) pp. 530-533. 10.1136/jmg.38.8.530.

S

Sharp, A; Moore,; G, E; (2001) Evidence for skewed X inactication for the involvement of trisomy 7 mosaicism in the aetiology of Silver-Russell syndrome. European Journal of Human Genetics , 9 (887) 891 - ?.

Stewart, VC; Heslegrave, AJ; Brown, GC; Clark, JB; Heales, SJR; (2001) Glutamate receptor activation mediates nitric oxide dependent damage to neuronal mitochondria. J NEUROCHEM , 78 84 - 84.

T

Taylor, SJC; Whincup, PH; Hindmarsh, PC; Lampe, F; Odoki, K; Cook, DG; (2001) Performance of a new pubertal self-assessment questionnaire: a preliminary study. PAEDIATR PERINAT EP , 15 (1) 88 - 94.

Thomas, PQ; Forrest, S; Warne, G; Zacharin, M; Cameron, F; Dattani, MT; ... Dunger, D; + view all (2001) Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Human Molecular Genetics , 10 (1) 39 - 45.

Tyson, J; Kelberman, D; Brady, A; Garrett, C; Botma, M; Lim, J; ... Bitner-Glindzicz, M; + view all (2001) Hemifacial microsomia: Progress in understanding the genetic basis of a multifactorial condition. In: Journal of Medical Genetics. (pp. 371 - ?).

Tyson, J; Tranebjaerg, L; McEntagart, M; Larsen, LA; Christiansen, M; Whiteford, ML; ... Bitner-Glindzicz, M; + view all (2001) Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen (vol 107, pg 499, 2000). In: HUM GENET. (pp. 75 - 75). SPRINGER-VERLAG

W

Wang, ZJ; Jeffs, B; Ito, M; Achermann, JC; Yu, RN; Hales, DB; Jameson, JL; (2001) Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1. P NATL ACAD SCI USA , 98 (14) 7988 - 7993.

Wiltshire, E; Couper, J; Rodda, C; Jameson, JL; Achermann, JC; (2001) Variable presentation of X-linked adrenal hypoplasia congenita. J PEDIATR ENDOCR MET , 14 (8) 1093 - 1096.

Witsch-Baumgartner, M; Löffler, J; Menzel, HJ; Utermann, G; Ciara, E; Krajewska-Walasek, M; ... Kelley, RI; + view all (2001) Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: Evidence for different origins of common mutations. European Journal of Human Genetics , 9 (1) 45 - 50.

Z

Zeng, BY; Heales, SJR; Canevari, L; Jenner, P; (2001) Dopamine D-1, D-2 and D-3 receptor binding density was not altered in tetrahydrobiopterin-deficient hph-1 mice. BRIT J PHARMACOL , 133 ? - ?.

This list was generated on Sun Apr 13 05:53:12 2014 BST.