-
1
-
-
0015243570
-
Congenital bowing of the long bones in two sisters
-
Stuve A, Wiedemann HR. Congenital bowing of the long bones in two sisters. Lancet 1971; 2: 495.
-
(1971)
Lancet
, vol.2
, pp. 495
-
-
Stuve, A.1
Wiedemann, H.R.2
-
2
-
-
8044242330
-
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia
-
DOI 10.1007/s004310050587
-
Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fennel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr 1997; 156: 214-223. (Pubitemid 27096365)
-
(1997)
European Journal of Pediatrics
, vol.156
, Issue.3
, pp. 214-223
-
-
Giedion, A.1
Boltshauser, E.2
Briner, J.3
Eich, G.4
Exner, G.5
Fendel, H.6
Kaufmann, L.7
Steinmann, B.8
Spranger, J.9
Superti-Furga, A.10
-
3
-
-
0032581120
-
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: A case for "lumping"
-
Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A. Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". Am J Med Genet 1998; 78: 150-154.
-
(1998)
Am J Med Genet
, vol.78
, pp. 150-154
-
-
Superti-Furga, A.1
Tenconi, R.2
Clementi, M.3
Eich, G.4
Steinmann, B.5
Boltshauser, E.6
Giedion, A.7
-
4
-
-
2842536025
-
Stüve-Wiedemann syndrome: Update and historical footnote
-
Wiedemann HR, Stüve A. Stüve-Wiedemann syndrome: update and historical footnote. Am J Med Genet 1996; 63: 12-16.
-
(1996)
Am J Med Genet
, vol.63
, pp. 12-16
-
-
Wiedemann, H.R.1
Stüve, A.2
-
5
-
-
0037241860
-
Stüve-Wiedemann syndrome in children surviving infancy: Clinical and radiological features
-
DOI 10.1097/00019605-200301000-00001
-
Al-Gazali LI, Ravenscroft A, Feng A, Shubbar A, Al-Saggaf A, Haas D. Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features. Clin Dysmorphol 2003; 12: 1-8. (Pubitemid 36106227)
-
(2003)
Clinical Dysmorphology
, vol.12
, Issue.1
, pp. 1-8
-
-
Al-Gazali, L.I.1
Ravenscroft, A.2
Feng, A.3
Shubbar, A.4
Al-Saggaf, A.5
Haas, D.6
-
6
-
-
0042331463
-
Long-term survival in Stuve-Wiedemann syndrome: A neuro-myo- skeletal disorder with manifestations of dysautonomia
-
Di Rocco M, Stella G, Bruno C, Doria Lamba L, Bado M, Superti-Furga A. Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. Am J Med Genet 2003; 118A: 362-368. (Pubitemid 37069987)
-
(2003)
American Journal of Medical Genetics
, vol.118 A
, Issue.4
, pp. 362-368
-
-
Di Rocco, M.1
Stella, G.2
Bruno, C.3
Lamba, L.D.4
Bado, M.5
Superti-Furga, A.6
-
7
-
-
10744227772
-
Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome
-
DOI 10.1086/381715
-
Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet 2004; 74: 298-305. (Pubitemid 38168617)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.2
, pp. 298-305
-
-
Dagoneau, N.1
Scheffer, D.2
Huber, C.3
Al-Gazali, L.I.4
Di Rocco, M.5
Godard, A.6
Martinovic, J.7
Raas-Rothschild, A.8
Sigaudy, S.9
Unger, S.10
Nicole, S.11
Fontaine, B.12
Taupin, J.-L.13
Moreau, J.-F.14
Superti-Furga, A.15
Le Merrer, M.16
Bonaventure, J.17
Munnich, A.18
Legeai-Mallet, L.19
Cormier-Daire, V.20
more..
-
8
-
-
0024539510
-
Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation
-
DOI 10.1002/pd.1970090208
-
Hunziker UA, Savoldelli G, Boltshauser E, Giedion A, Schinzel A. Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation. Prenat Diagn 1989; 9: 127-131. (Pubitemid 19072552)
-
(1989)
Prenatal Diagnosis
, vol.9
, Issue.2
, pp. 127-131
-
-
Hunziker, U.A.1
Savoldelli, G.2
Boltshauser, E.3
Giedion, A.4
Schinzel, A.5
-
9
-
-
0027256192
-
CONDUITE A TENIR DEVANT LA DECOUVERTE ECHOGRAPHIQUE D'UN FEMUR COURT IN UTERO. A PROPOS D'UN DIAGNOSTIC ANTENATAL DE SYNDROME DE STUVE-WIEDEMANN
-
Philippe HJ, Paupe A, Dompeyre P, Lenclen R, Nisand I. Management of a short femur discovered via ultrasound in utero. Prenatal diagnosis of Stuve-Wiedemann syndrome. J Gynecol Obstet Biol Reprod (Paris) 1993; 22: 269-274. (Pubitemid 23188230)
-
(1993)
Journal de Gynecologie Obstetrique et Biologie de la Reproduction
, vol.22
, Issue.3
, pp. 269-274
-
-
Philippe, H.J.1
Paupe, A.2
Dompeyre, P.3
Lenclen, R.4
Nisand, I.5
-
10
-
-
0031772571
-
Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2
-
Sigaudy S, Moncla A, Fredouille C, Bourlière B, Lambert JC, Philip N. Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. Clin Dysmorphol 1998; 7: 257-262. (Pubitemid 28518757)
-
(1998)
Clinical Dysmorphology
, vol.7
, Issue.4
, pp. 257-262
-
-
Sigaudy, S.1
Moncla, A.2
Fredouille, C.3
Bourliere, B.4
Lambert, J.C.5
Philip, N.6
-
11
-
-
0024533962
-
Prenatal prediction of lethal pulmonary hypoplasia using ultrasonic fetal chest circumference
-
Songster GS, Gray DL, Crane JP. Prenatal prediction of lethal pulmonary hypoplasia using ultrasonic fetal chest circumference. Obstet Gynecol 1989; 73: 261-266. (Pubitemid 19046543)
-
(1989)
Obstetrics and Gynecology
, vol.73
, Issue.2
, pp. 261-266
-
-
Songster, G.S.1
Gray, D.L.2
Crane, J.P.3
-
12
-
-
33845971924
-
Nosology and classification of genetic skeletal disorders: 2006 Revision
-
DOI 10.1002/ajmg.a.31483
-
Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. AmJ MedGenet Part A 2007; 143A: 1-18. (Pubitemid 46051466)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.1
, pp. 1-18
-
-
Superti-Furga, A.1
Unger, S.2
Beighton, P.3
Bonafe, L.4
Braverman, N.5
Briggs, M.6
Cohn, D.7
Cormier-Daire, V.8
Francomano, C.9
Hall, C.10
Horton, W.11
Kaitila, I.12
Krakow, D.13
Lachman, R.14
Lee, B.15
LeMerrer, M.16
Mortier, G.17
Mundlos, S.18
Nishimura, G.19
Poznanski, A.20
Rimoin, D.21
Robertson, S.22
Savarirayan, R.23
Spranger, J.24
Sillence, D.25
Warman, M.26
Wilcox, W.27
Wilkie, A.28
Zabel, B.29
Zankl, A.30
more..
-
13
-
-
62549126859
-
Intrauterine growth restriction: Comparison of American College of Obstetricians and Gynecologists practice bulletin with other national guidelines
-
Chauhan SP, Gupta LM, Hendrix NW, Berghella V. Intrauterine growth restriction: comparison of American College of Obstetricians and Gynecologists practice bulletin with other national guidelines. Am J Obstet Gynecol 2009; 200: 409-411.
-
(2009)
Am J Obstet Gynecol
, vol.200
, pp. 409-411
-
-
Chauhan, S.P.1
Gupta, L.M.2
Hendrix, N.W.3
Berghella, V.4
-
14
-
-
34249693614
-
Ultrasound findings of a rare congenital skeletal dysplasia: Stüve-Wiedemann syndrome
-
Rugolo S, Cavallaro A, Giuffrida L, Cianci A. Ultrasound findings of a rare congenital skeletal dysplasia: Stüve-Wiedemann syndrome. Minerva Ginecol 2007; 59: 91-94. (Pubitemid 46841588)
-
(2007)
Minerva Ginecologica
, vol.59
, Issue.1
, pp. 91-94
-
-
Rugolo, S.1
Cavallaro, A.2
Giuffrida, L.3
Cianci, A.4
-
15
-
-
0141993248
-
Birth Prevalence and Pattern of Osteochondrodysplasias in an Inbred High Risk Population
-
DOI 10.1002/bdra.10009
-
Al-Gazali LI, Bakir M, Hamid Z, Varady E, Varghes M, Haas D, Bener A, Padmanabhan R, Abdulrrazzaq YM, Dawadu A. Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population. Birth Defects Res A Clin Mol Teratol 2003; 67: 125-132. (Pubitemid 38222005)
-
(2003)
Birth Defects Research Part A - Clinical and Molecular Teratology
, vol.67
, Issue.2
, pp. 125-132
-
-
Al-Gazali, L.I.1
Bakir, M.2
Hamid, Z.3
Varady, E.4
Varghes, M.5
Haas, D.6
Bener, A.7
Padmanabhan, R.8
Abdulrrazzzaq, Y.M.9
Dawodu, A.K.10
-
16
-
-
0030609737
-
Consanguineous marriages in the UAE
-
Al-Gazali LI, Bener A, Abdulrazzaq YM, Micallef R, Al-Khayat Al, Gaber T. Consanguineous marriages in the UAE. J Biosoc Sci 1997; 29: 491-497.
-
(1997)
J Biosoc Sci
, vol.29
, pp. 491-497
-
-
Al-Gazali, L.I.1
Bener, A.2
Abdulrazzaq, Y.M.3
Micallef, R.4
Al, A.5
Gaber, T.6
-
17
-
-
4544342086
-
New insights in congenital bowing of the femora
-
DOI 10.1111/j.0009-9163.2004.00307.x
-
Cormier-Daire V, Geneviève D,Munnich A, Le Merrer M.New insights in congenital bowing of the femora. Clin Genet 2004; 66: 169-176. (Pubitemid 39232779)
-
(2004)
Clinical Genetics
, vol.66
, Issue.3
, pp. 169-176
-
-
Cormier-Daire, V.1
Genevieve, D.2
Munnich, A.3
Le Merrer, M.4
-
18
-
-
0041319285
-
Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: Problems in differential diagnosis and genetic counseling
-
Pryde PG, Zelop C, Pauli RM. Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling. Am JMed Genet 2003; 117A: 203-206. (Pubitemid 37063983)
-
(2003)
American Journal of Medical Genetics
, vol.117 A
, Issue.3
, pp. 203-206
-
-
Pryde, P.G.1
Zelop, C.2
Pauli, R.M.3
-
19
-
-
34249886806
-
Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988-2006)
-
DOI 10.1002/ajmg.a.31711
-
Alanay Y, Krawkow D, Rimoin DL, Lachman RS. Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006). Am J Genet Part A 2007; 143A: 1159-1168. (Pubitemid 46870070)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.11
, pp. 1159-1168
-
-
Alanay, Y.1
Krakow, D.2
Rimoin, D.L.3
Lachman, R.S.4
-
20
-
-
0028500258
-
Osteogenesis imperfecta and campomelic dysplasia: Difficulties in prenatal diagnosis
-
Sanders RC, Greyson-Fleg RT, Hogge WA, Blakemore KJ, McGowan KD, Isbister S. Osteogenesis imperfecta and campomelic dysplasia: difficulties in prenatal diagnosis. JUltrasound Med 1994; 13: 691-700. (Pubitemid 24282359)
-
(1994)
Journal of Ultrasound in Medicine
, vol.13
, Issue.9
, pp. 691-700
-
-
Sanders, R.C.1
Greyson-Fleg, R.T.2
Hogge, W.A.3
Blakemore, K.J.4
McGowan, K.D.5
Isbister, S.6
-
21
-
-
0042867369
-
Second-trimester sonographic diagnosis of diastrophic dysplasia: Report of 2 index cases
-
Wax JR, Carpenter M, Smith W, Grimes C, Pinette MG, Blackstone J, Cartin A. Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases. J Ultrasound Med 2003; 22: 805-808. (Pubitemid 36903968)
-
(2003)
Journal of Ultrasound in Medicine
, vol.22
, Issue.8
, pp. 805-808
-
-
Wax, J.R.1
Carpenter, M.2
Smith, W.3
Grimes, C.4
Pinette, M.G.5
Blackstone, J.6
Cartin, A.7
-
22
-
-
4043097658
-
Newer imaging modalities in the prenatal diagnosis of skeletal dysplasias
-
DOI 10.1002/uog.1712
-
Gonçalves LF, Espinoza J, Mazor M, Romero R. Newer imaging modalities in the prenatal diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol 2004; 24: 115-120. (Pubitemid 39061833)
-
(2004)
Ultrasound in Obstetrics and Gynecology
, vol.24
, Issue.2
, pp. 115-120
-
-
Goncalves, L.F.1
Espinoza, J.2
Mazor, M.3
Romero, R.4
-
23
-
-
0035193542
-
Congenital skeletal abnormalities: An introduction to the radiological semiology
-
DOI 10.1016/S0720-048X(01)00398-9, PII S0720048X01003989
-
Vanhoenacker FM, Van Hul W, Gielen J, De Schepper AM. Congenital skeletal abnormalities: an introduction to the radiological semiology. Eur J Radiol 2001; 40: 168-183. (Pubitemid 33112017)
-
(2001)
European Journal of Radiology
, vol.40
, Issue.3
, pp. 168-183
-
-
Vanhoenacker, F.M.1
Van Hul, W.2
Gielen, J.3
De Schepper, A.M.4
-
24
-
-
0035201913
-
The diagnosis of skeletal dysplasias: A multidisciplinary approach
-
DOI 10.1016/S0720-048X(01)00397-7, PII S0720048X01003977
-
Mortier GR. The diagnosis of skeletal dysplasias: a multidisciplinary approach. Eur J Radiol 2001; 40: 161-167. (Pubitemid 33112016)
-
(2001)
European Journal of Radiology
, vol.40
, Issue.3
, pp. 161-167
-
-
Mortier, G.R.1
-
26
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
-
DOI 10.1038/372525a0
-
Foster JW, Dominguez-Steglich A, Guloll S, Kwok C, Weller P, Stevanovik M, Weissenbach J, Mansour S, Young I, Goodfellow P, Brook D, Schafer A. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994; 378: 525-530. (Pubitemid 24368528)
-
(1994)
Nature
, vol.372
, Issue.6506
, pp. 525-530
-
-
Foster, J.W.1
Dominguez-Steglich, M.A.2
Guioli, S.3
Kwok, C.4
Weller, P.A.5
Stevanovic, M.6
Weissenbach, J.7
Mansour, S.8
Young, I.D.9
Goodfellow, P.N.10
Brook, J.D.11
Schafer, A.J.12
-
27
-
-
0036344516
-
The phenotype of survivors of campomelic dysplasia
-
Mansour S, Offiah AC, McDowall S, Sim P, Tolmie J, Hall C. The phenotype of survivors of campomelic dysplasia. J Med Genet 2002; 39: 597-602. (Pubitemid 34864566)
-
(2002)
Journal of Medical Genetics
, vol.39
, Issue.8
, pp. 597-602
-
-
Mansour, S.1
Offiah, A.C.2
McDowall, S.3
Sim, P.4
Tolmie, J.5
Hall, C.6
-
29
-
-
0022729738
-
Kyphomelic dysplasia versus femoral hypoplasia-unusual facies syndrome
-
Pitt D. Kyphomelic dysplasia versus femoral hypoplasia-unusual facies syndrome. Am J Med Genet 1986; 24: 365-366.
-
(1986)
Am J Med Genet
, vol.24
, pp. 365-366
-
-
Pitt, D.1
-
30
-
-
0033671159
-
Kyphomelic dysplasia: A rare form of semilethal skeletal dysplasia
-
Prasad C, Cramer BC, Pushpanathan C, Crowley MC, Ives EJ. Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia. Clin Genet 2000; 58: 390-395.
-
(2000)
Clin Genet
, vol.58
, pp. 390-395
-
-
Prasad, C.1
Cramer, B.C.2
Pushpanathan, C.3
Crowley, M.C.4
Ives, E.J.5
-
31
-
-
0020511169
-
Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers
-
Johnson JP, Carey JC, Gooch WM 3rd, Petersen J, Beattie JF. Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers. J Pediatr 1983; 102: 866-872. (Pubitemid 13058786)
-
(1983)
Journal of Pediatrics
, vol.102
, Issue.6
, pp. 866-872
-
-
Johnson, J.P.1
Carey, J.C.2
Gooch III, W.M.3
-
32
-
-
0027978110
-
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
-
DOI 10.1016/0092-8674(94)90281-X
-
Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-DalyMP, DalyM, Hamilton BA, Kusumi K, Trivedi B, Weaver A, Coloma A, Lovett M, Buckler B, Kaitila I, Lander ES. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994; 78: 1073-1087. (Pubitemid 24292334)
-
(1994)
Cell
, vol.78
, Issue.6
, pp. 1073-1087
-
-
Hastbacka, J.1
De La Chapelle, A.2
Mahtani, M.M.3
Clines, G.4
Reeve-Daly, M.P.5
Daly, M.6
Hamilton, B.A.7
Kusumi, K.8
Trivedi, B.9
Weaver, A.10
Coloma, A.11
Lovett, M.12
Buckler, A.13
Kaitila, I.14
Lander, E.S.15
-
33
-
-
0030844599
-
Antley-Bixler syndrome. Description of two new cases and a review of the literature
-
discussion 281
-
Bottero L, Cinalli G, Labrune P, Lajeunie E, Renier D. Antley-Bixler syndrome. Description of two new cases and a review of the literature. Childs Nerv Syst 1997; 13: 275-280; discussion 281.
-
(1997)
Childs Nerv Syst
, vol.13
, pp. 275-280
-
-
Bottero, L.1
Cinalli, G.2
Labrune, P.3
Lajeunie, E.4
Renier, D.5
-
34
-
-
18244383287
-
Differentiating campomelic dysplasia from Cumming syndrome [3]
-
DOI 10.1002/ajmg.a.30650
-
Watiker V, Lachman RS, Wilcox WR, Barroso I, Schafer AJ, Scherer G.Differentiating campomelic dysplasia from Cumming syndrome. Am J Med Genet 2005; 135A: 110-112. (Pubitemid 40627677)
-
(2005)
American Journal of Medical Genetics
, vol.135 A
, Issue.1
, pp. 110-112
-
-
Watiker, V.1
Lachman, R.S.2
Wilcox, W.H.3
Barroso, I.4
Schaffer, A.J.5
Scherer, G.6
|