-
1
-
-
0000358890
-
Ein fall von symmetrischer monodaktylie durh ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaftigkeit, halsrippen, beeharung)
-
Brachmann W. Ein fall von symmetrischer monodaktylie durh ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaftigkeit, halsrippen, beeharung). Jb Kinderheilk 1916 84 : 224 35.
-
(1916)
Jb Kinderheilk
, vol.84
, pp. 224-35
-
-
Brachmann, W.1
-
2
-
-
0001547083
-
Sur un type noveau de degeneration (typus amstelodamensis)
-
De Lange C. Sur un type noveau de degeneration (typus amstelodamensis). Arch Med Enf 1933 36 : 713 8.
-
(1933)
Arch Med Enf
, vol.36
, pp. 713-8
-
-
De Lange, C.1
-
3
-
-
0027503882
-
Developmental data on individuals with the Brachmann-de Lange syndrome
-
15
-
Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson LG. Developmental data on individuals with the Brachmann-de Lange syndrome. Am J Med Genet 1993 15 47 : 1053 8.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1053-8
-
-
Kline, A.D.1
Stanley, C.2
Belevich, J.3
Brodsky, K.4
Barr, M.5
Jackson, L.G.6
-
4
-
-
0027366126
-
Clinical variability within Brachmann-de Lange syndrome: A proposed classification system
-
Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, et al. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet 1993 15 : 947 58.
-
(1993)
Am J Med Genet
, vol.15
, pp. 947-58
-
-
Van Allen, M.I.1
Filippi, G.2
Siegel-Bartelt, J.3
Yong, S.L.4
McGillivray, B.5
Zuker, R.M.6
-
5
-
-
0041821653
-
Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms
-
Luzzani S, Macchini F, Valade A, Milani D, Selicorni A. Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms. Am J Med Genet A 2003 15 : 283 7.
-
(2003)
Am J Med Genet a
, vol.15
, pp. 283-7
-
-
Luzzani, S.1
MacChini, F.2
Valade, A.3
Milani, D.4
Selicorni, A.5
-
6
-
-
0035109003
-
Endomysium antibodies in the diagnosis of celiac disease in short-statured children with no gastrointestinal symptoms
-
Tumer L, Hasanoglu A, Aybay C. Endomysium antibodies in the diagnosis of celiac disease in short-statured children with no gastrointestinal symptoms. Pediatr Int 2001 43 : 71 3.
-
(2001)
Pediatr Int
, vol.43
, pp. 71-3
-
-
Tumer, L.1
Hasanoglu, A.2
Aybay, C.3
-
7
-
-
0027232180
-
Down's syndrome and celiac disease: The prevalence of high IgA-antigliadin antibodies and HLA-DR and DQ antigens in trisomy 21
-
Castro M, Crino A, Papadatou B, Purpura M, Giannotti A, Ferretti F, et al. Down's syndrome and celiac disease: the prevalence of high IgA-antigliadin antibodies and HLA-DR and DQ antigens in trisomy 21. J Pediatr Gastroenterol Nutr 1993 16 : 265 8.
-
(1993)
J Pediatr Gastroenterol Nutr
, vol.16
, pp. 265-8
-
-
Castro, M.1
Crino, A.2
Papadatou, B.3
Purpura, M.4
Giannotti, A.5
Ferretti, F.6
-
8
-
-
0027451061
-
Down syndrome and coeliac disease: Five new cases with a review of the literature
-
Hilhorst MI, Brink M, Wauters EA, Houwen RH. Down syndrome and coeliac disease: five new cases with a review of the literature. Eur J Pediatr 1993 152 : 884 7.
-
(1993)
Eur J Pediatr
, vol.152
, pp. 884-7
-
-
Hilhorst, M.I.1
Brink, M.2
Wauters, E.A.3
Houwen, R.H.4
-
9
-
-
0034754514
-
Coeliac disease in Williams syndrome
-
Giannotti A, Tiberio G, Castro M, Virgilii F, Colistro F, Ferretti F, et al. Coeliac disease in Williams syndrome. J Med Genet 2001 38 : 767 8.
-
(2001)
J Med Genet
, vol.38
, pp. 767-8
-
-
Giannotti, A.1
Tiberio, G.2
Castro, M.3
Virgilii, F.4
Colistro, F.5
Ferretti, F.6
-
10
-
-
0032835290
-
Prevalence of coeliac disease in Turner syndrome
-
Ivarsson SA, Carlsson A, Bredberg A, Alm J, Aronsson S, Gustafsson J, et al. Prevalence of coeliac disease in Turner syndrome. Acta Paediatr 1999 88 : 933 6.
-
(1999)
Acta Paediatr
, vol.88
, pp. 933-6
-
-
Ivarsson, S.A.1
Carlsson, A.2
Bredberg, A.3
Alm, J.4
Aronsson, S.5
Gustafsson, J.6
-
11
-
-
0033364256
-
The histopathology of coeliac disease: Time for a standardized report scheme for pathologists
-
Oberhuber G, Granditsch G, Vogelsang H. The histopathology of coeliac disease: time for a standardized report scheme for pathologists. Eur J Gastroenterol Hepatol 1999 11 : 1185 94.
-
(1999)
Eur J Gastroenterol Hepatol
, vol.11
, pp. 1185-94
-
-
Oberhuber, G.1
Granditsch, G.2
Vogelsang, H.3
-
12
-
-
0021970795
-
The Brachman-de Lange Syndrome
-
Opitz JM. The Brachman-de Lange Syndrome. Am J Med Genet 1985 22 : 89 102.
-
(1985)
Am J Med Genet
, vol.22
, pp. 89-102
-
-
Opitz, J.M.1
-
13
-
-
2642542322
-
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
-
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Gen 2004 36 : 631 5.
-
(2004)
Nat Gen
, vol.36
, pp. 631-5
-
-
Krantz, I.D.1
McCallum, J.2
Descipio, C.3
Kaur, M.4
Gillis, L.A.5
Yaeger, D.6
-
14
-
-
2642565901
-
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
-
Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 2004 36 : 636 41.
-
(2004)
Nat Genet
, vol.36
, pp. 636-41
-
-
Tonkin, E.T.1
Wang, T.J.2
Lisgo, S.3
Bamshad, M.J.4
Strachan, T.5
-
15
-
-
4544253309
-
NIPBL mutational analysis in 120 individuals with Cornelia de Lange Syndrome and evaluation of genotype-phetotype correlations
-
Gillis LA, Mc Callum J, Kaur M, DeScipio C, Yaeger D, Mariani A, et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange Syndrome and evaluation of genotype-phetotype correlations. Am J Hum Genet 2004 75 : 610 23.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 610-23
-
-
Gillis, L.A.1
Mc Callum, J.2
Kaur, M.3
Descipio, C.4
Yaeger, D.5
Mariani, A.6
-
16
-
-
24344509111
-
Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome
-
Hulinsky R, Byrne GL, Lowiichik A, Viskochie DH. Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome. Am J Med Genet A 2005 137 : 336 8.
-
(2005)
Am J Med Genet a
, vol.137
, pp. 336-8
-
-
Hulinsky, R.1
Byrne, G.L.2
Lowiichik, A.3
Viskochie, D.H.4
-
17
-
-
33646379870
-
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
-
Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006 38 : 528 30.
-
(2006)
Nat Genet
, vol.38
, pp. 528-530
-
-
Musio, A.1
Selicorni, A.2
Focarelli, M.L.3
Gervasini, C.4
Milani, D.5
Russo, S.6
-
18
-
-
0042695819
-
Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome)
-
Digilio MC, Giannotti A, Castro M, Colistro F, Ferretti F, Marino B, et al. Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome). Am J Med Genet A 2003 121 : 286 8.
-
(2003)
Am J Med Genet a
, vol.121
, pp. 286-8
-
-
Digilio, M.C.1
Giannotti, A.2
Castro, M.3
Colistro, F.4
Ferretti, F.5
Marino, B.6
-
19
-
-
33751089077
-
Population screening for coeliac disease in a low prevalence area in Italy
-
Menardo G, Brizzolara R, Bonassi S, Marchetti A, Dante GL, Pistone C, et al. Population screening for coeliac disease in a low prevalence area in Italy. Scand J Gastroenterol 2006 41 : 1414 20.
-
(2006)
Scand J Gastroenterol
, vol.41
, pp. 1414-20
-
-
Menardo, G.1
Brizzolara, R.2
Bonassi, S.3
Marchetti, A.4
Dante, G.L.5
Pistone, C.6
|