-
1
-
-
46349104985
-
Chondrodysplasia punctata: A clinical diagnostic and radiological review
-
10.1097/MCD.0b013e3282fdcc70 18978650
-
MD Irving LS Chitty S Mansour CM Hall 2008 Chondrodysplasia punctata: a clinical diagnostic and radiological review Clin Dysmorphol 17 4 229 241 10.1097/MCD.0b013e3282fdcc70 18978650
-
(2008)
Clin Dysmorphol
, vol.17
, Issue.4
, pp. 229-241
-
-
Irving, M.D.1
Chitty, L.S.2
Mansour, S.3
Hall, C.M.4
-
2
-
-
0023955942
-
Chondrodysplasia punctata associated with Down syndrome. Presentation of a case and review of the literature
-
1:STN:280:DyaL1c7otFyluw%3D%3D 2965538
-
J Hernandez S Salas I Pastor J Quero F Collado F Omenaca 1988 Chondrodysplasia punctata associated with Down syndrome. Presentation of a case and review of the literature An Esp Pediatr 28 145 147 1:STN:280: DyaL1c7otFyluw%3D%3D 2965538
-
(1988)
An Esp Pediatr
, vol.28
, pp. 145-147
-
-
Hernandez, J.1
Salas, S.2
Pastor, I.3
Quero, J.4
Collado, F.5
Omenaca, F.6
-
3
-
-
67349179053
-
Multiple malformations: A possible sonic hedgehog phenotype
-
10.1007/s00428-009-0735-9
-
H Wainwright P Beighton 2009 Multiple malformations: a possible sonic hedgehog phenotype Virchows Arch 454 3345 3347 10.1007/s00428-009-0735-9
-
(2009)
Virchows Arch
, vol.454
, pp. 3345-3347
-
-
Wainwright, H.1
Beighton, P.2
-
4
-
-
0033582939
-
Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata
-
DOI 10.1002/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2- C
-
RI Kelly WG Wilcox M Smith, et al. 1999 Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata Am J Med Genet 83 3 213 219 10.1002/(SICI)1096- 8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2-C (Pubitemid 29115298)
-
(1999)
American Journal of Medical Genetics
, vol.83
, Issue.3
, pp. 213-219
-
-
Kelley, R.I.1
Wilcox, W.G.2
Smith, M.3
Kratz, L.E.4
Moser, A.5
Rimoin, D.S.6
-
6
-
-
0345255889
-
Human malformation syndromes due to inborn errors of cholesterol synthesis
-
DOI 10.1097/00008480-200312000-00011
-
FD Porter 2003 Human malformation syndromes due to inborn errors of cholesterol synthesis Curr Opin Pediatr 15 6 607 613 10.1097/00008480-200312000- 00011 14631207 (Pubitemid 37487376)
-
(2003)
Current Opinion in Pediatrics
, vol.15
, Issue.6
, pp. 607-613
-
-
Porter, F.D.1
-
7
-
-
45949086117
-
The nature of cartilage stippling in chondrodysplasia punctata: Histopathological study of Conradi-Hünermann syndrome
-
DOI 10.1080/15513810802077487, PII 794312774
-
UE Pazzaglia G Zarattini C Donzelli A Benetti MP Bondioni C Groli 2008 The nature of cartilage stippling in chondrodysplasia punctata: histopathological study of Conradi-Hünermann syndrome Fetal Pediatr Pathol 27 2 71 81 10.1080/15513810802077487 18568995 (Pubitemid 351890379)
-
(2008)
Fetal and Pediatric Pathology
, vol.27
, Issue.2
, pp. 71-81
-
-
Pazzaglia, U.E.1
Zarattini, G.2
Donzelli, C.3
Benetti, A.4
Bondioni, M.P.5
Groli, C.6
-
9
-
-
0031875304
-
Chondrodysplasia punctata and maternal systemic lupus erythematosus
-
HV Toriello 1998 Chondrodysplasia punctata and maternal systemic lupus erythematosus J Med Genet 35 8 698 699 10.1136/jmg.35.8.698 1:STN:280: DyaK1czotlyruw%3D%3D 9719384 (Pubitemid 28371989)
-
(1998)
Journal of Medical Genetics
, vol.35
, Issue.8
, pp. 698-699
-
-
Toriello, H.V.1
-
10
-
-
9444264255
-
Chondrodysplasia punctata in siblings and maternal lupus erythematosus
-
DOI 10.1111/j.1399-0004.2004.00364.x
-
K Kozlowski D Basel P Beighton 2004 Chondrodysplasia punctata and maternal lupus erythemtosus Clin Genet 66 6 545 549 10.1111/j.1399-0004.2004. 00364.x 1:STN:280:DC%2BD2crltVGlsA%3D%3D 15521983 (Pubitemid 39562018)
-
(2004)
Clinical Genetics
, vol.66
, Issue.6
, pp. 545-549
-
-
Kozlowski, K.1
Basel, D.2
Beighton, P.3
-
11
-
-
34547697679
-
Chondrodysplasia punctata and maternal autoimmune disease: A new case and review of the literature
-
DOI 10.1542/peds.2006-2997
-
AL Shanske L Bernstein R Herzog 2007 Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature Pediatrics 120 2 436 441 10.1542/peds.2006-2997 (Pubitemid 47219516)
-
(2007)
Pediatrics
, vol.120
, Issue.2
-
-
Shanske, A.L.1
Bernstein, L.2
Herzog, R.3
-
12
-
-
57149120603
-
Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from Systemic Lupus Erythematosus (SLE) to Mixed Connective Tissue Disease (MCTD) and scleroderma report of eight cases
-
DOI 10.1002/ajmg.a.32554
-
D Chitayat S Keating DJ Zand T Costa EH Zackie E Silverman G Tiller S Unger S Miller J Kingdom A Toi CJ Curry 2008 Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases Am J Med Genet 146A 23 3038 3053 10.1002/ajmg.a.32554 19006208 (Pubitemid 352774644)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.23
, pp. 3038-3053
-
-
Chitayat, D.1
Keating, S.2
Zand, D.J.3
Costa, T.4
Zackai, E.H.5
Silverman, E.6
Tiller, G.7
Unger, S.8
Miller, S.9
Kingdom, J.10
Toi, A.11
Curry, C.J.R.12
-
13
-
-
0034597344
-
Novel and recurrent EBP mutations in x-linked dominant chondrodysplasia punctata
-
10.1002/1096-8628(20001002)94:4<300::AID-AJMG7>3.0.CO;2-3 1:STN:280:DC%2BD3M%2Fjt1ykug%3D%3D 11038443
-
S Ikegawa H Ohashi T Ogata, et al. 2000 Novel and recurrent EBP mutations in x-linked dominant chondrodysplasia punctata Am J Med Genet 94 300 305 10.1002/1096-8628(20001002)94:4<300::AID-AJMG7>3.0.CO;2-3 1:STN:280:DC%2BD3M%2Fjt1ykug%3D%3D 11038443
-
(2000)
Am J Med Genet
, vol.94
, pp. 300-305
-
-
Ikegawa, S.1
Ohashi, H.2
Ogata, T.3
-
14
-
-
38949085895
-
Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis
-
DOI 10.2340/00015555-0337
-
A Kolb-Mäurer KH Grzeschik D Haas EB Bröcker H Hamm 2008 Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis Acta Derm Venereol 88 1 47 51 10.2340/00015555-0337 18176751 (Pubitemid 351212136)
-
(2008)
Acta Dermato-Venereologica
, vol.88
, Issue.1
, pp. 47-51
-
-
Kolb-Maurer, A.1
Grzeschik, K.-H.2
Haas, D.3
Brocker, E.-B.4
Hamm, H.5
-
15
-
-
45249088576
-
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata
-
DOI 10.1002/pd.1980
-
C Tysoe CJ Law R Caswell P Clayton S Ellard 2008 Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata Prenat Diagn 28 5 384 388 10.1002/pd.1980 1:CAS:528:DC%2BD1cXotVOgtL8%3D 18395876 (Pubitemid 351838441)
-
(2008)
Prenatal Diagnosis
, vol.28
, Issue.5
, pp. 384-388
-
-
Tysoe, C.1
Law, C.J.2
Caswell, R.3
Clayton, P.4
Ellard, S.5
|