-
1
-
-
0028939527
-
Etiology and risk factors of severe and protracted diarrhea
-
Guarino, A.; Spagnuolo, M.I.; Russo, S.; Albano, F.; Guandalini, S.; Capano, G.; Cucchiara, S.; Vairano, P.; Liguori, R.; Casola, A., et al. Etiology and risk factors of severe and protracted diarrhea. J. Pediatr. Gastroenterol. Nutr. 1995, 20, 173-178.
-
(1995)
J. Pediatr. Gastroenterol. Nutr
, vol.20
, pp. 173-178
-
-
Guarino, A.1
Spagnuolo, M.I.2
Russo, S.3
Albano, F.4
Guandalini, S.5
Capano, G.6
Cucchiara, S.7
Vairano, P.8
Liguori, R.9
Casola, A.10
-
2
-
-
32544435712
-
Chronic and Intractabile Diarrhea
-
Guandalini, S., Ed.; McGraw-Hill: Chicago, IL, USA
-
Berni Canani, R.; Cirillo, P.; Terrin, G. Chronic and Intractabile Diarrhea. In Essential Pediatric Gastroenterology Hepatology and Nutrition; Guandalini, S., Ed.; McGraw-Hill: Chicago, IL, USA, 2005; pp. 25-47.
-
(2005)
Essential Pediatric Gastroenterology Hepatology and Nutrition
, pp. 25-47
-
-
Berni Canani, R.1
Cirillo, P.2
Terrin, G.3
-
3
-
-
77950204761
-
Congenital diarrheal disorders: Improved understanding of gene defects is leading to advances in intestinal physiology and clinical management
-
Berni Canani, R.; Terrin, G.; Cardillo, G.; Tomaiuolo, R.; Castaldo, G. Congenital diarrheal disorders: Improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J. Pediatr. Gastroenterol. Nutr. 2010, 50, 360-366.
-
(2010)
J. Pediatr. Gastroenterol. Nutr
, vol.50
, pp. 360-366
-
-
Berni Canani, R.1
Terrin, G.2
Cardillo, G.3
Tomaiuolo, R.4
Castaldo, G.5
-
5
-
-
0037214955
-
Molecular diagnosis of Cystic Fibrosis: Comparison of four analytical procedures
-
Tomaiuolo, R.; Spina, M.; Castaldo, G. Molecular diagnosis of Cystic Fibrosis: Comparison of four analytical procedures. Clin. Chem. Lab. Med. 2003, 41, 26-32.
-
(2003)
Clin. Chem. Lab. Med
, vol.41
, pp. 26-32
-
-
Tomaiuolo, R.1
Spina, M.2
Castaldo, G.3
-
6
-
-
77953508904
-
Diarrhea in neonatal intensive care unit
-
Passariello, A.; Terrin, G.; Baldassarre, M.E.; de Curtis, M.; Paludetto, R.; Berni Canani, R. Diarrhea in neonatal intensive care unit. World J. Gastroenterol. 2010, 16, 2664-2668.
-
(2010)
World J. Gastroenterol
, vol.16
, pp. 2664-2668
-
-
Passariello, A.1
Terrin, G.2
Baldassarre, M.E.3
de Curtis, M.4
Paludetto, R.5
Berni Canani, R.6
-
7
-
-
79951700485
-
Lysinuric protein intolerance: Reviewing concepts on a multisystem disease
-
Sebastio, G.; Sperandeo, M.P.; Andria, G. Lysinuric protein intolerance: Reviewing concepts on a multisystem disease. Am. J. Med. Genet. C 2011, 157, 54-62.
-
(2011)
Am. J. Med. Genet. C
, vol.157
, pp. 54-62
-
-
Sebastio, G.1
Sperandeo, M.P.2
Andria, G.3
-
8
-
-
0035061941
-
Intolerance to lactose and other dietary sugars
-
Swallow, D.M.; Poulter, M.; Hollox, E.J. Intolerance to lactose and other dietary sugars. Drug Metab. Dispos. 2001, 29, 513-516.
-
(2001)
Drug Metab. Dispos
, vol.29
, pp. 513-516
-
-
Swallow, D.M.1
Poulter, M.2
Hollox, E.J.3
-
9
-
-
79959727272
-
Update on SLC26A3 mutations in congenital chloride diarrhea
-
Wedenoja, S.; Pekansaari, E.; Höglund, P.; Mäkelä, S.; Holmberg, C.; Kere, J. Update on SLC26A3 mutations in congenital chloride diarrhea. Hum. Mutat. 2011, 32, 715-722.
-
(2011)
Hum. Mutat
, vol.32
, pp. 715-722
-
-
Wedenoja, S.1
Pekansaari, E.2
Höglund, P.3
Mäkelä, S.4
Holmberg, C.5
Kere, J.6
-
10
-
-
4143152851
-
Butyrate as an effective treatment of congenital chloride diarrhea
-
Berni Canani, R.; Terrin, G.; Cirillo, P.; Castaldo, G.; Salvatore, F.; Cardillo, G.; Coruzzo, A.; Troncone, R. Butyrate as an effective treatment of congenital chloride diarrhea. Gastroenterology 2004, 127, 630-634.
-
(2004)
Gastroenterology
, vol.127
, pp. 630-634
-
-
Berni Canani, R.1
Terrin, G.2
Cirillo, P.3
Castaldo, G.4
Salvatore, F.5
Cardillo, G.6
Coruzzo, A.7
Troncone, R.8
-
11
-
-
79955926323
-
Recent progress in congenital diarrheal disorders
-
Berni Canani, R.; Terrin, G. Recent progress in congenital diarrheal disorders. Curr. Gastroenterol. Rep. 2011, 13, 257-264.
-
(2011)
Curr. Gastroenterol. Rep
, vol.13
, pp. 257-264
-
-
Berni Canani, R.1
Terrin, G.2
-
13
-
-
74049102306
-
Review article: The clinical management of congenital chloride diarrhoea
-
Wedenoja, S.; Höglund, P.; Holmberg, C. Review article: The clinical management of congenital chloride diarrhoea. Aliment Pharmacol Ther. 2010, 31, 477-85.
-
(2010)
Aliment Pharmacol Ther
, vol.31
, pp. 477-485
-
-
Wedenoja, S.1
Höglund, P.2
Holmberg, C.3
-
14
-
-
33644770990
-
Disaccharide digestion: Clinical and molecular aspects
-
Robayo-Torres, C.C.; Quezada-Calvillo, R.; Nichols, B.L. Disaccharide digestion: Clinical and molecular aspects. Clin. Gastroenterol. Hepatol. 2006, 4, 276-287.
-
(2006)
Clin. Gastroenterol. Hepatol
, vol.4
, pp. 276-287
-
-
Robayo-Torres, C.C.1
Quezada-Calvillo, R.2
Nichols, B.L.3
-
16
-
-
11244296897
-
Digestive and absorptive processes of lipids
-
Marcil, V.; Peretti, N.; Delvin, E.; Levy, E. Digestive and absorptive processes of lipids. Gastroenterol. Clin. Biol. 2004, 28, 1257-1266.
-
(2004)
Gastroenterol. Clin. Biol
, vol.28
, pp. 1257-1266
-
-
Marcil, V.1
Peretti, N.2
Delvin, E.3
Levy, E.4
-
17
-
-
33846581917
-
Review article: Fructose malabsorption and the bigger picture
-
Gibson, P.R.; Newnham, E.; Barrett, J.S.; Shepherd, S.J.; Muir, J.G. Review article: Fructose malabsorption and the bigger picture. Aliment. Pharmacol. Ther. 2007, 25, 349-363.
-
(2007)
Aliment. Pharmacol. Ther
, vol.25
, pp. 349-363
-
-
Gibson, P.R.1
Newnham, E.2
Barrett, J.S.3
Shepherd, S.J.4
Muir, J.G.5
-
18
-
-
18244378028
-
Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency
-
Holzinger, A.; Maier, E.M.; Buck, C.; Mayerhofer, P.U.; Kappler, M.; Haworth, J.C.; Moroz, S.P.; Hadorn, H.B.; Sadler, J.E.; Roscher, A.A. Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. Am. J. Hum. Genet. 2002, 70, 20-25.
-
(2002)
Am. J. Hum. Genet
, vol.70
, pp. 20-25
-
-
Holzinger, A.1
Maier, E.M.2
Buck, C.3
Mayerhofer, P.U.4
Kappler, M.5
Haworth, J.C.6
Moroz, S.P.7
Hadorn, H.B.8
Sadler, J.E.9
Roscher, A.A.10
-
19
-
-
66149151676
-
GLUT2 mutations, translocation, and receptor function in diet sugar managing
-
Leturque, A.; Brot-Laroche, E.; Le Gall, M. GLUT2 mutations, translocation, and receptor function in diet sugar managing. Am. J. Physiol. Endocrinol. Metab. 2009, 296, E985-E992.
-
(2009)
Am. J. Physiol. Endocrinol. Metab
, vol.296
-
-
Leturque, A.1
Brot-Laroche, E.2
le Gall, M.3
-
20
-
-
66349089042
-
An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica
-
Schmitt, S.; Kury, S.; Giraud, M.; Dréno, B.; Kharfi, M.; Bézieau, S. An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. Hum. Mutat. 2009, 30, 926-933.
-
(2009)
Hum. Mutat
, vol.30
, pp. 926-933
-
-
Schmitt, S.1
Kury, S.2
Giraud, M.3
Dréno, B.4
Kharfi, M.5
Bézieau, S.6
-
21
-
-
33746093870
-
Mutant neurogenin-3 in congenital malabsorptive diarrhea
-
Wang, J.; Cortina, G.; Wu, S.V.; Tran, R.; Cho, J.H.; Tsai, M.J.; Bailey, T.J.; Jamrich, M.; Ament, M.E.; Treem, W.R.; et al. Mutant neurogenin-3 in congenital malabsorptive diarrhea. N. Engl. J. Med. 2006, 355, 270-280.
-
(2006)
N. Engl. J. Med
, vol.355
, pp. 270-280
-
-
Wang, J.1
Cortina, G.2
Wu, S.V.3
Tran, R.4
Cho, J.H.5
Tsai, M.J.6
Bailey, T.J.7
Jamrich, M.8
Ament, M.E.9
-
22
-
-
77951857203
-
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model
-
Ruemmele, F.M.; Müller, T.; Schiefermeier, N.; Ebner, H.L.; Lechner, S.; Pfaller, K.; Thöni C.E.; Goulet, O.; Lacaille, F.; Schmitz, J., et al. Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Hum. Mutat. 2010, 31, 544-551.
-
(2010)
Hum. Mutat
, vol.31
, pp. 544-551
-
-
Ruemmele, F.M.1
Müller, T.2
Schiefermeier, N.3
Ebner, H.L.4
Lechner, S.5
Pfaller, K.6
Thöni, C.E.7
Goulet, O.8
Lacaille, F.9
Schmitz, J.10
-
23
-
-
0035167967
-
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
-
Bennett, C.L.; Christie, J.; Ramsdell, F.; Brunkow, M.E.; Ferguson, P.J.; Whitesell, L.; Kelly, T.E.; Saulsbury, F.T.; Chance, P.F.; Ochs, H.D. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat. Genet. 2001, 27, 20-21.
-
(2001)
Nat. Genet
, vol.27
, pp. 20-21
-
-
Bennett, C.L.1
Christie, J.2
Ramsdell, F.3
Brunkow, M.E.4
Ferguson, P.J.5
Whitesell, L.6
Kelly, T.E.7
Saulsbury, F.T.8
Chance, P.F.9
Ochs, H.D.10
-
24
-
-
77954310457
-
Genetic control of the inflammatory T-cell response in regulatory T-cell deficient scurfy mice
-
Sharma, R.; Ju, S.T. Genetic control of the inflammatory T-cell response in regulatory T-cell deficient scurfy mice. Clin. Immunol. 2010, 136, 162-169.
-
(2010)
Clin. Immunol
, vol.136
, pp. 162-169
-
-
Sharma, R.1
Ju, S.T.2
-
25
-
-
70350625520
-
Autoimmune enteropathy in children and adults
-
Montalto, M.; D'Onofrio, F.; Santoro, L.; Gallo, A.; Gasbarrini, A.; Gasbarrini, G. Autoimmune enteropathy in children and adults. Scand. J. Gastroenterol. 2009, 44, 1029-1036.
-
(2009)
Scand. J. Gastroenterol
, vol.44
, pp. 1029-1036
-
-
Montalto, M.1
D'onofrio, F.2
Santoro, L.3
Gallo, A.4
Gasbarrini, A.5
Gasbarrini, G.6
-
26
-
-
31544475472
-
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency
-
Kuokkanen, M.; Kokkonen, J.; Enattah, N.S.; Ylisaukko-Oja, T.; Komu, H.; Varilo, T.; Peltonen, L.; Savilahti, E.; Jarvela, I. Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. Am. J. Hum. Genet. 2006, 78, 339-344.
-
(2006)
Am. J. Hum. Genet
, vol.78
, pp. 339-344
-
-
Kuokkanen, M.1
Kokkonen, J.2
Enattah, N.S.3
Ylisaukko-Oja, T.4
Komu, H.5
Varilo, T.6
Peltonen, L.7
Savilahti, E.8
Jarvela, I.9
-
27
-
-
0037010071
-
Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies
-
Nichols, B.L.; Avery, S.E.; Karnsakul, W.; Jahoor, F.; Sen, P.; Swallow, D.M.; Luginbuehl, U.; Hahn, D.; Sterchi, E.E. Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies. J. Pediatr. Gastroenterol. Nutr. 2002, 35, 573-579.
-
(2002)
J. Pediatr. Gastroenterol. Nutr
, vol.35
, pp. 573-579
-
-
Nichols, B.L.1
Avery, S.E.2
Karnsakul, W.3
Jahoor, F.4
Sen, P.5
Swallow, D.M.6
Luginbuehl, U.7
Hahn, D.8
Sterchi, E.E.9
-
29
-
-
62649129318
-
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea
-
Heinz-Erian, P.; Muller, T.; Krabichler, B.; Schranz, M.; Becker, C.; Rüschendorf, F.; Nürnberg, P.; Rossier, B.; Vujic, M.; Booth, I.W., et al. Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am. J. Hum. Genet. 2009, 84, 188-196.
-
(2009)
Am. J. Hum. Genet
, vol.84
, pp. 188-196
-
-
Heinz-Erian, P.1
Muller, T.2
Krabichler, B.3
Schranz, M.4
Becker, C.5
Rüschendorf, F.6
Nürnberg, P.7
Rossier, B.8
Vujic, M.9
Booth, I.W.10
-
30
-
-
0034463313
-
Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes
-
Muller, T.; Wijmenga, C.; Phillips, A.D.; Janecke, A.; Houwen, R.H.; Fischer, H.; Ellemunter, H.; Frühwirth, M.; Offner, F.; Hofer, S., et al. Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. Gastroenterology 2000, 119, 1506-1513.
-
(2000)
Gastroenterology
, vol.119
, pp. 1506-1513
-
-
Muller, T.1
Wijmenga, C.2
Phillips, A.D.3
Janecke, A.4
Houwen, R.H.5
Fischer, H.6
Ellemunter, H.7
Frühwirth, M.8
Offner, F.9
Hofer, S.10
-
31
-
-
0018889021
-
Congenital pancreatic lipase deficiency
-
Figarella, C.; de Caro, A.; Leupold, D.; Poley, J.R. Congenital pancreatic lipase deficiency. J. Pediatr. 1980, 96, 412-416.
-
(1980)
J. Pediatr
, vol.96
, pp. 412-416
-
-
Figarella, C.1
de Caro, A.2
Leupold, D.3
Poley, J.R.4
-
32
-
-
83855165766
-
An overview of hereditary pancreatitis
-
Rebours, V.; Levy, P.; Ruszniewski, P. An overview of hereditary pancreatitis. Dig. Liver Dis. 2011, 44, 8-15.
-
(2011)
Dig. Liver Dis
, vol.44
, pp. 8-15
-
-
Rebours, V.1
Levy, P.2
Ruszniewski, P.3
-
33
-
-
84555195959
-
Extensive molecular analysis of patients bearing CFTR-related disorders
-
Amato, F.; Bellia, C.; Cardillo, G.; Castaldo, G.; Ciaccio, M.; Elce, A.; Lembo, F.; Tomaiuolo, R. Extensive molecular analysis of patients bearing CFTR-related disorders. J. Mol. Diagn. 2012, 14, 81-89.
-
(2012)
J. Mol. Diagn
, vol.14
, pp. 81-89
-
-
Amato, F.1
Bellia, C.2
Cardillo, G.3
Castaldo, G.4
Ciaccio, M.5
Elce, A.6
Lembo, F.7
Tomaiuolo, R.8
-
34
-
-
0028834528
-
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia
-
Narcisi, T.M.; Shoulders, C.C.; Chester, S.A.; Read, J.; Brett, D.J.; Harrison, G.B.; Grantham, T.T.; Fox, M.F.; Povey, S.; de Bruin, T.W., et al. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am. J. Hum. Genet. 1995, 57, 1293-1310.
-
(1995)
Am. J. Hum. Genet
, vol.57
, pp. 1293-1310
-
-
Narcisi, T.M.1
Shoulders, C.C.2
Chester, S.A.3
Read, J.4
Brett, D.J.5
Harrison, G.B.6
Grantham, T.T.7
Fox, M.F.8
Povey, S.9
de Bruin, T.W.10
-
35
-
-
33947587430
-
Abetalipoproteinemia in Israel: Evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient
-
Benayoun, L.; Granot, E.; Rizel, L.; Allon-Shalev, S.; Behar, D.M.; Ben-Yosef, T. Abetalipoproteinemia in Israel: Evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. Mol. Genet. Metab. 2007, 90, 453-457.
-
(2007)
Mol. Genet. Metab
, vol.90
, pp. 453-457
-
-
Benayoun, L.1
Granot, E.2
Rizel, L.3
Allon-Shalev, S.4
Behar, D.M.5
Ben-Yosef, T.6
-
36
-
-
0142010537
-
Familial hypobetalipoproteinemia: A review
-
Schonfeld, G. Familial hypobetalipoproteinemia: A review. J. Lipid Res. 2003, 44, 878-883.
-
(2003)
J. Lipid Res
, vol.44
, pp. 878-883
-
-
Schonfeld, G.1
-
37
-
-
77949898407
-
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: Evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B
-
Zhong, S.; Magnolo, A.L.; Sundaram, M.; Zhou, H.; Yao, E.F.; di Leo, E.; Loria, P.; Wang, S.; Bamji-Mirza, M.; Wang, L., et al. Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: Evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. J. Biol. Chem. 2010, 285, 6453-6464.
-
(2010)
J. Biol. Chem
, vol.285
, pp. 6453-6464
-
-
Zhong, S.1
Magnolo, A.L.2
Sundaram, M.3
Zhou, H.4
Yao, E.F.5
di Leo, E.6
Loria, P.7
Wang, S.8
Bamji-Mirza, M.9
Wang, L.10
-
38
-
-
0037229094
-
Mutations in SBDS are associated with Shwachman-Diamond syndrome
-
Boocock, G.R.; Morrison, J.A.; Popovic, M.; Richards, N.; Ellis, L.; Durie, P.R.; Rommens, J.M. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat. Genet. 2003, 33, 97-101.
-
(2003)
Nat. Genet
, vol.33
, pp. 97-101
-
-
Boocock, G.R.1
Morrison, J.A.2
Popovic, M.3
Richards, N.4
Ellis, L.5
Durie, P.R.6
Rommens, J.M.7
-
39
-
-
62649085630
-
Shwachman-Diamond syndrome: A review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment
-
Burroughs, L.; Woolfrey, A.; Shimamura, A. Shwachman-Diamond syndrome: A review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol. Oncol. Clin. North Am. 2009, 23, 233-248.
-
(2009)
Hematol. Oncol. Clin. North Am
, vol.23
, pp. 233-248
-
-
Burroughs, L.1
Woolfrey, A.2
Shimamura, A.3
-
40
-
-
1542329108
-
Neonatal congenital microvillus atrophy
-
Pecache, N.; Patole, S.; Hagan, R.; Hill, D.; Charles, A.; Papadimitriou, J.M. Neonatal congenital microvillus atrophy. Postgrad. Med. J. 2004, 80, 80-83.
-
(2004)
Postgrad. Med. J
, vol.80
, pp. 80-83
-
-
Pecache, N.1
Patole, S.2
Hagan, R.3
Hill, D.4
Charles, A.5
Papadimitriou, J.M.6
-
41
-
-
77957561592
-
Tufting enteropathy with EpCAM mutations in two siblings
-
Ko, J.S.; Seo, J.K.; Shim, J.O.; Hwang, S.H.; Park, H.S.; Kang, G.H. Tufting enteropathy with EpCAM mutations in two siblings. Gut Liver 2010, 4, 407-410.
-
(2010)
Gut Liver
, vol.4
, pp. 407-410
-
-
Ko, J.S.1
Seo, J.K.2
Shim, J.O.3
Hwang, S.H.4
Park, H.S.5
Kang, G.H.6
-
42
-
-
79951786877
-
Novel mutations in TTC37 associated with Tricho-Hepato-Enteric syndrome
-
Fabre, A.; Martinez-Vinson, C.; Roquelaure, B.; Missirian, C.; André, N.; Breton, A.; Lachaux, A.; Odul, E.; Colomb, V.; Lemale, J., et al. Novel mutations in TTC37 associated with Tricho-Hepato-Enteric syndrome. Hum. Mutat. 2011, 32, 277-281.
-
(2011)
Hum. Mutat
, vol.32
, pp. 277-281
-
-
Fabre, A.1
Martinez-Vinson, C.2
Roquelaure, B.3
Missirian, C.4
André, N.5
Breton, A.6
Lachaux, A.7
Odul, E.8
Colomb, V.9
Lemale, J.10
-
43
-
-
41649106443
-
Syndromic (phenotypic) diarrhea in early infancy
-
Goulet, O.; Vinson, C.; Roquelaure, B.; Brousse, N.; Bodemer, C.; Cézard, J.P. Syndromic (phenotypic) diarrhea in early infancy. Orphanet. J. Rare. Dis. 2008, 28, 3-6.
-
(2008)
Orphanet. J. Rare. Dis
, vol.28
, pp. 3-6
-
-
Goulet, O.1
Vinson, C.2
Roquelaure, B.3
Brousse, N.4
Bodemer, C.5
Cézard, J.P.6
-
44
-
-
79953219761
-
Permanent neonatal diabetes and enteric anendocrinosis associated with biallelic mutations in NEUROG3
-
Rubio-Cabezas, O.; Jensen, J.N.; Hodgson, M.I.; Codner, E.; Ellard, S.; Serup, P.; Hattersley, A.T. Permanent neonatal diabetes and enteric anendocrinosis associated with biallelic mutations in NEUROG3. Diabetes 2011, 60, 1349-1353.
-
(2011)
Diabetes
, vol.60
, pp. 1349-1353
-
-
Rubio-Cabezas, O.1
Jensen, J.N.2
Hodgson, M.I.3
Codner, E.4
Ellard, S.5
Serup, P.6
Hattersley, A.T.7
-
45
-
-
79960108667
-
Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence
-
Pinney, S.E.; Oliver-Krasinski, J.; Ernst, L.; Hughes, N.; Patel, P.; Stoffers, D.A.; Russo, P.; de León, D.D. Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence. J. Clin. Endocrinol. Metab. 2011, 96, 1960-1965.
-
(2011)
J. Clin. Endocrinol. Metab
, vol.96
, pp. 1960-1965
-
-
Pinney, S.E.1
Oliver-Krasinski, J.2
Ernst, L.3
Hughes, N.4
Patel, P.5
Stoffers, D.A.6
Russo, P.7
de León, D.D.8
-
46
-
-
0346096721
-
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency
-
Jackson, R.S.; Creemers, J.W.; Farooqi, I.S.; Raffin-Sanson, M.L.; Varro, A.; Dockray, G.J.; Holst, J.J.; Brubaker, P.L.; Corvol, P.; Polonsky, K.S., et al. Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J. Clin. Invest. 2003, 112, 1550-1560.
-
(2003)
J. Clin. Invest
, vol.112
, pp. 1550-1560
-
-
Jackson, R.S.1
Creemers, J.W.2
Farooqi, I.S.3
Raffin-Sanson, M.L.4
Varro, A.5
Dockray, G.J.6
Holst, J.J.7
Brubaker, P.L.8
Corvol, P.9
Polonsky, K.S.10
-
48
-
-
70349747028
-
From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome
-
Blanco Quirós, A.; Arranz Sanz, E.; Bernardo Ordiz, D.; Garrote Adrados, J.A. From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome. Allergol. Immunopathol. 2009, 37, 208-215.
-
(2009)
Allergol. Immunopathol
, vol.37
, pp. 208-215
-
-
Blanco Quirós, A.1
Arranz Sanz, E.2
Bernardo Ordiz, D.3
Garrote Adrados, J.A.4
-
49
-
-
77958582858
-
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome
-
Harbuz, R.; Lespinasse, J.; Boulet, S.; Francannet, C.; Creveaux, I.; Benkhelifa, M.; Jouk, P.S.; Lunardi, J.; Ray, P.F. Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome. Prenat. Diagn. 2010, 30, 1072-1078.
-
(2010)
Prenat. Diagn
, vol.30
, pp. 1072-1078
-
-
Harbuz, R.1
Lespinasse, J.2
Boulet, S.3
Francannet, C.4
Creveaux, I.5
Benkhelifa, M.6
Jouk, P.S.7
Lunardi, J.8
Ray, P.F.9
-
50
-
-
0034869235
-
APECED mutations in the autoimmune regulator (AIRE) gene
-
Heino, M.; Peterson, P.; Kudoh, J.; Shimizu, N.; Antonarakis, S.E.; Scott, H.S.; Krohn, K. APECED mutations in the autoimmune regulator (AIRE) gene. Hum. Mutat. 2001, 18, 205-211.
-
(2001)
Hum. Mutat
, vol.18
, pp. 205-211
-
-
Heino, M.1
Peterson, P.2
Kudoh, J.3
Shimizu, N.4
Antonarakis, S.E.5
Scott, H.S.6
Krohn, K.7
-
51
-
-
70449431334
-
Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
-
Faiyaz-Ul-Haque, M.; Bin-Abbas, B.; Al-Abdullatif, A.; Abdullah Abalkhail, H.; Toulimat, M.; Al-Gazlan, S.; Almutawa, A.M.; Al-Sagheir, A.; Peltekova, I.; Al-Dayel, F., et al. Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients. Clin. Genet. 2009, 76, 431-440.
-
(2009)
Clin. Genet
, vol.76
, pp. 431-440
-
-
Faiyaz-Ul-Haque, M.1
Bin-Abbas, B.2
Al-Abdullatif, A.3
Abdullah Abalkhail, H.4
Toulimat, M.5
Al-Gazlan, S.6
Almutawa, A.M.7
Al-Sagheir, A.8
Peltekova, I.9
Al-Dayel, F.10
-
52
-
-
33846805925
-
CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes
-
Caudy, A.A.; Reddy, S.T.; Chatila, T.; Atkinson, J.P.; Verbsky, J.W. CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J. Allergy Clin. Immunol. 2007, 119, 482-487.
-
(2007)
J. Allergy Clin. Immunol
, vol.119
, pp. 482-487
-
-
Caudy, A.A.1
Reddy, S.T.2
Chatila, T.3
Atkinson, J.P.4
Verbsky, J.W.5
-
53
-
-
0034257089
-
Prenatal diagnosis of cystic fibrosis: A case of twin pregnancy diagnosis and a review of 5 years' experience
-
Castaldo, G.; Martinelli, P.; Massa, C.; Fuccio, A.; Grosso, M.; Rippa, E.; Paladini, D.; Salvatore, F. Prenatal diagnosis of cystic fibrosis: A case of twin pregnancy diagnosis and a review of 5 years' experience. Clin. Chim. Acta 2000, 298, 121-133.
-
(2000)
Clin. Chim. Acta
, vol.298
, pp. 121-133
-
-
Castaldo, G.1
Martinelli, P.2
Massa, C.3
Fuccio, A.4
Grosso, M.5
Rippa, E.6
Paladini, D.7
Salvatore, F.8
-
54
-
-
53249134468
-
Regulations and practices of genetic counselling in 38 European countries: The perspective of national representatives
-
Rantanen, E.; Hietala, M.; Kristoffersson, U.; Nippert, I.; Schmidtke, J.; Sequeiros, J.; Kaariainen, H. Regulations and practices of genetic counselling in 38 European countries: The perspective of national representatives. Eur. J. Hum. Genet. 2008, 16, 1208-1216.
-
(2008)
Eur. J. Hum. Genet
, vol.16
, pp. 1208-1216
-
-
Rantanen, E.1
Hietala, M.2
Kristoffersson, U.3
Nippert, I.4
Schmidtke, J.5
Sequeiros, J.6
Kaariainen, H.7
-
55
-
-
77954228225
-
Review: Molecular diagnostics: Between chips and customized medicine
-
Castaldo, G.; Lembo, F.; Tomaiuolo, R. Review: Molecular diagnostics: Between chips and customized medicine. Clin. Chem. Lab. Med. 2010, 48, 973-982.
-
(2010)
Clin. Chem. Lab. Med
, vol.48
, pp. 973-982
-
-
Castaldo, G.1
Lembo, F.2
Tomaiuolo, R.3
-
56
-
-
51349128304
-
Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study
-
Tomaiuolo, R.; Sangiuolo, F.; Bombieri, C.; Bonizzato, A.; Cardillo, G.; Raia, V.; D'Apice, M.R.; Bettin, M.D.; Pignatti, P.F.; Castaldo, G., et al. Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study. J. Cyst. Fibros. 2008, 7, 347-351.
-
(2008)
J. Cyst. Fibros
, vol.7
, pp. 347-351
-
-
Tomaiuolo, R.1
Sangiuolo, F.2
Bombieri, C.3
Bonizzato, A.4
Cardillo, G.5
Raia, V.6
D'apice, M.R.7
Bettin, M.D.8
Pignatti, P.F.9
Castaldo, G.10
-
57
-
-
4444346207
-
Quality assessment in cytogenetic and molecular genetic testing: The experience of the Italian project on standardization and quality assurance
-
Taruscio, D.; Falbo, V.; Floridia, G.; Salvatore, M.; Pescucci, C.; Cantafora, A.; Marongiu, C.; Baroncini, A.; Calzolari, E.; Cao, A., et al. Quality assessment in cytogenetic and molecular genetic testing: The experience of the Italian project on standardization and quality assurance. Clin. Chem. Lab. Med. 2004, 42, 915-922.
-
(2004)
Clin. Chem. Lab. Med
, vol.42
, pp. 915-922
-
-
Taruscio, D.1
Falbo, V.2
Floridia, G.3
Salvatore, M.4
Pescucci, C.5
Cantafora, A.6
Marongiu, C.7
Baroncini, A.8
Calzolari, E.9
Cao, A.10
-
58
-
-
67650046461
-
Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis
-
Elce, A.; Boccia, A.; Cardillo, G.; Giordano, S.; Tomaiuolo, R.; Paolella, G.; Castaldo, G. Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis. Clin. Chem. 2009, 55, 1372-1379.
-
(2009)
Clin. Chem
, vol.55
, pp. 1372-1379
-
-
Elce, A.1
Boccia, A.2
Cardillo, G.3
Giordano, S.4
Tomaiuolo, R.5
Paolella, G.6
Castaldo, G.7
|