-
1
-
-
0027861014
-
Fanconi anemia diagnosis and the diepoxybutane (DEB) test
-
Auerbach AD. 1993. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol 21:731-733.
-
(1993)
Exp Hematol
, vol.21
, pp. 731-733
-
-
Auerbach, A.D.1
-
2
-
-
0002725969
-
Fanconi anemia
-
Vogelstein B, Kinzler KW, editors. New York: McGraw Hill, Inc.
-
Auerbach AD, Buchwald M, Joenje H. 1999. Fanconi anemia. In: Vogelstein B, Kinzler KW, editors. The genetic basis of human cancer. New York: McGraw Hill, Inc., pp. 317-332.
-
(1999)
The Genetic Basis of Human Cancer
, pp. 317-332
-
-
Auerbach, A.D.1
Buchwald, M.2
Joenje, H.3
-
3
-
-
0026342840
-
Nager acrofacial dysostosis: Male-to-male transmission in two families
-
Aylsworth AS, Lin AE, Friedman PA. 1991. Nager acrofacial dysostosis: Male-to-male transmission in two families. Am J Med Genet 41:83-88.
-
(1991)
Am J Med Genet
, vol.41
, pp. 83-88
-
-
Aylsworth, A.S.1
Lin, A.E.2
Friedman, P.A.3
-
4
-
-
0027180245
-
Nager acrofacial dysosotosis: Minor familial manifestations supporting dominant inheritance
-
Bonthron DT, Macgregor DF, Barr DG. 1993. Nager acrofacial dysosotosis: Minor familial manifestations supporting dominant inheritance. Clin Genet 43:127-131.
-
(1993)
Clin Genet
, vol.43
, pp. 127-131
-
-
Bonthron, D.T.1
Macgregor, D.F.2
Barr, D.G.3
-
5
-
-
0025049261
-
Prenatal ultrasonographic diagnosis of radial-ray reduction malformations
-
Brons JT, Van der Harten H, Van geijn HP, Wladimiroff JW, Niermeijer MF, Lindhout D, Stuart PA, Mejer CJ, Arts NF. 1990. Prenatal ultrasonographic diagnosis of radial-ray reduction malformations. Prenat Diagn 10:279-288.
-
(1990)
Prenat Diagn
, vol.10
, pp. 279-288
-
-
Brons, J.T.1
Van Der Harten, H.2
Van Geijn, H.P.3
Wladimiroff, J.W.4
Niermeijer, M.F.5
Lindhout, D.6
Stuart, P.A.7
Mejer, C.J.8
Arts, N.F.9
-
6
-
-
0029867615
-
Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: Complex defect of blastogenesis?
-
David A, Mercier J, Verloes A. 1996. Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: Complex defect of blastogenesis? Am J Med Genet 62:1-5.
-
(1996)
Am J Med Genet
, vol.62
, pp. 1-5
-
-
David, A.1
Mercier, J.2
Verloes, A.3
-
7
-
-
0034525016
-
The clinical and radiological features of Fanconi's anemia
-
De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frja J. 2000. The clinical and radiological features of Fanconi's anemia. Clin Radiol 55:340-345.
-
(2000)
Clin Radiol
, vol.55
, pp. 340-345
-
-
De Kerviler, E.1
Guermazi, A.2
Zagdanski, A.M.3
Gluckman, E.4
Frja, J.5
-
8
-
-
0031829384
-
Cloning, characterization, and chromosomal assignment of the human ortholog of murine ZFP-37, a candidate gene for Nager syndrome
-
Dreyer SD, Zhou L, Machado MA, Horton WA, Zabel B, Winterpacht A, Lee B. 1998. Cloning, characterization, and chromosomal assignment of the human ortholog of murine ZFP-37, a candidate gene for Nager syndrome. Mamm Genome 9:458-462.
-
(1998)
Mamm Genome
, vol.9
, pp. 458-462
-
-
Dreyer, S.D.1
Zhou, L.2
Machado, M.A.3
Horton, W.A.4
Zabel, B.5
Winterpacht, A.6
Lee, B.7
-
9
-
-
0029944076
-
Nager acrofacial dysosotosis. An adult male with severe neurological deficit
-
Fryns JP, Bonhomme A, Van den Berghe H. 1996. Nager acrofacial dysosotosis. An adult male with severe neurological deficit. Genet Couns 7:147-151.
-
(1996)
Genet Couns
, vol.7
, pp. 147-151
-
-
Fryns, J.P.1
Bonhomme, A.2
Van Den Berghe, H.3
-
10
-
-
0023215757
-
A test for Fanconi's anemia
-
German J, Schonberg S, Caskie S, Warburton D, Falk C, Ray JH. 1987. A test for Fanconi's anemia. Blood 69:1637-1641.
-
(1987)
Blood
, vol.69
, pp. 1637-1641
-
-
German, J.1
Schonberg, S.2
Caskie, S.3
Warburton, D.4
Falk, C.5
Ray, J.H.6
-
11
-
-
0036904055
-
Common craniofacial anomalies: The facial dysostoses
-
Hunt JA, Hobar PC. 2002. Common craniofacial anomalies: The facial dysostoses. Plast Reconstr Surg 110:1714-1725.
-
(2002)
Plast Reconstr Surg
, vol.110
, pp. 1714-1725
-
-
Hunt, J.A.1
Hobar, P.C.2
-
13
-
-
3342905112
-
Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome
-
Kennedy JS, Teebi AS. 2004. Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. Am J Med Genet 129A:73-76
-
(2004)
Am J Med Genet
, vol.129 A
, pp. 73-76
-
-
Kennedy, J.S.1
Teebi, A.S.2
-
15
-
-
0036854979
-
Johann Friedrich Meckel d. J. (1781-1833) und die moderne Teratologie
-
Klunker R, Göbbel L, Musil A, Tönnies H, Schultka R. 2002. Johann Friedrich Meckel d. J. (1781-1833) und die moderne Teratologie. Ann Anat 184:535-540.
-
(2002)
Ann Anat
, vol.184
, pp. 535-540
-
-
Klunker, R.1
Göbbel, L.2
Musil, A.3
Tönnies, H.4
Schultka, R.5
-
16
-
-
0035140760
-
Flexor digitorum longus accessorius in the club foot of an infant with Nager syndrome
-
Kubota H, Noguchi Y, Urabe K, Itokawa T, Nakashima Y, Iwamoto Y. 2001. Flexor digitorum longus accessorius in the club foot of an infant with Nager syndrome. Arch Orthop Surg 121:95-96.
-
(2001)
Arch Orthop Surg
, vol.121
, pp. 95-96
-
-
Kubota, H.1
Noguchi, Y.2
Urabe, K.3
Itokawa, T.4
Nakashima, Y.5
Iwamoto, Y.6
-
17
-
-
0032997902
-
Sonographic features of fetal trisomy 18 at 13 and 14 weeks: Four case reports
-
Lam YH, Tang MH. 1999. Sonographic features of fetal trisomy 18 at 13 and 14 weeks: Four case reports. Ultrasound Obstet Gynecol 13:366-369.
-
(1999)
Ultrasound Obstet Gynecol
, vol.13
, pp. 366-369
-
-
Lam, Y.H.1
Tang, M.H.2
-
18
-
-
0026335232
-
Fanconi anemia presenting unexpectedly in an adult kindred with no dismorphic features
-
Liu JM, Auerbach AD, Young NS. 1991. Fanconi anemia presenting unexpectedly in an adult kindred with no dismorphic features. Am J Med 91:555-557.
-
(1991)
Am J Med
, vol.91
, pp. 555-557
-
-
Liu, J.M.1
Auerbach, A.D.2
Young, N.S.3
-
19
-
-
0142227881
-
Upper limb abnormalities as an isolated ultrasonographic finding in early detection of trisomy 18. A case report. 2003
-
Makrydimas G, Papanikolaou E, Paraskevaidis E, Paschopoulus M, Lolis D. 2003. Upper limb abnormalities as an isolated ultrasonographic finding in early detection of trisomy 18. A case report. 2003. Fetal Diagn Ther 18:401-403.
-
(2003)
Fetal Diagn Ther
, vol.18
, pp. 401-403
-
-
Makrydimas, G.1
Papanikolaou, E.2
Paraskevaidis, E.3
Paschopoulus, M.4
Lolis, D.5
-
21
-
-
0002696740
-
Das Gehörorgan bei den angeborenen Kopf-Missbildungen
-
Nager FR, de Reyner JP. 1948. Das Gehörorgan bei den angeborenen Kopf-Missbildungen. Pract Oto Rhinolaryngol 10:1-28.
-
(1948)
Pract Oto Rhinolaryngol
, vol.10
, pp. 1-28
-
-
Nager, F.R.1
De Reyner, J.P.2
-
22
-
-
0032581131
-
Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen
-
Oostra B-J, Baljet B, Hennekam RCM. 1998. Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen. Am J Med Genet 78:195-197.
-
(1998)
Am J Med Genet
, vol.78
, pp. 195-197
-
-
Oostra, B.-J.1
Baljet, B.2
Hennekam, R.C.M.3
-
23
-
-
0027452302
-
Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X-linked dominant Catania form of acrofacial dysostosis
-
Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M. 1993. Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X-linked dominant Catania form of acrofacial dysostosis. Am J Med Genet 47:660-678.
-
(1993)
Am J Med Genet
, vol.47
, pp. 660-678
-
-
Opitz, J.M.1
Mollica, F.2
Sorge, G.3
Milana, G.4
Cimino, G.5
Caltabiano, M.6
-
25
-
-
0037294813
-
Prenatal ultrasound diagnosis of Nager syndrome
-
Paladini D, Tartaglione A, Lamberti A, Lapadula C, Martinelli P. 2003. Prenatal ultrasound diagnosis of Nager syndrome. Ultrasound Obstet Gynecol 21:195-197.
-
(2003)
Ultrasound Obstet Gynecol
, vol.21
, pp. 195-197
-
-
Paladini, D.1
Tartaglione, A.2
Lamberti, A.3
Lapadula, C.4
Martinelli, P.5
-
26
-
-
0020614922
-
Acrofacial dysostosis (Nager syndrome): Synopsis and report of a new case
-
Pfeiffer RA, Stoess H. 1983. Acrofacial dysostosis (Nager syndrome): Synopsis and report of a new case. Am J Med Genet 15:255-260.
-
(1983)
Am J Med Genet
, vol.15
, pp. 255-260
-
-
Pfeiffer, R.A.1
Stoess, H.2
-
27
-
-
0018222514
-
Anatomical analysis of the developmental effects of aneuploidy in man - The 18-trisomy syndrome: II. Anomalies of the upper and the lower limbs
-
Ramirez-Castro JL, Bersu ET. 1978. Anatomical analysis of the developmental effects of aneuploidy in man-the 18-trisomy syndrome: II. Anomalies of the upper and the lower limbs. Am J Med Genet 2:285-306.
-
(1978)
Am J Med Genet
, vol.2
, pp. 285-306
-
-
Ramirez-Castro, J.L.1
Bersu, E.T.2
-
28
-
-
0042321148
-
Spontaneous expression of FRA3P in a patient with Nager syndrome
-
Scapoli L, Martinelli M, Pezzetti F, Carahelli E, Carinci F, Cenzi R, Meneghetti A, Donti E. 2003. Spontaneous expression of FRA3P in a patient with Nager syndrome. Am J Med Genet 118A:293-295.
-
(2003)
Am J Med Genet
, vol.118 A
, pp. 293-295
-
-
Scapoli, L.1
Martinelli, M.2
Pezzetti, F.3
Carahelli, E.4
Carinci, F.5
Cenzi, R.6
Meneghetti, A.7
Donti, E.8
-
29
-
-
0028905268
-
Prenatal detection of preaxial upper limb reduction in trisomy 18
-
Sepulveda W, Treadwell MC, Fisk NM. 1995. Prenatal detection of preaxial upper limb reduction in trisomy 18. Obstet Gynecol 85:847-850.
-
(1995)
Obstet Gynecol
, vol.85
, pp. 847-850
-
-
Sepulveda, W.1
Treadwell, M.C.2
Fisk, N.M.3
-
30
-
-
33646223949
-
Tetrasomy 18p in a child with trisomy 18 phenotype
-
Singer TS, Kohn G, Yatziv S. 1990. Tetrasomy 18p in a child with trisomy 18 phenotype. Am J Med Genet 50:94-95.
-
(1990)
Am J Med Genet
, vol.50
, pp. 94-95
-
-
Singer, T.S.1
Kohn, G.2
Yatziv, S.3
-
31
-
-
0041319189
-
Two unique patients with trisomy 18 mosaicim and molecular marker studies
-
Slavotinek A, Poyser L, Wallace A, Martin F, Gaunt L, Kingston H. 2003. Two unique patients with trisomy 18 mosaicim and molecular marker studies. Am J Med Genet 117A:282-288.
-
(2003)
Am J Med Genet
, vol.117 A
, pp. 282-288
-
-
Slavotinek, A.1
Poyser, L.2
Wallace, A.3
Martin, F.4
Gaunt, L.5
Kingston, H.6
-
33
-
-
3242658933
-
Fanconi anaemia and leukemia-clinical and molecular aspects
-
Tischkowitz M, Dokal I. 2004. Fanconi anaemia and leukemia-clinical and molecular aspects. Br J Hematol 126:176-191.
-
(2004)
Br J Hematol
, vol.126
, pp. 176-191
-
-
Tischkowitz, M.1
Dokal, I.2
-
35
-
-
0036854874
-
Molekular-zytogenetische analysen an alter-DNA (aDNA) anhand von Präparaten der meckelschen Sammlungen zu halle
-
Tönnies H, Klunker R, Saar K, Göbbel L, Musil A, Schultka R. 2002. Molekular-zytogenetische analysen an alter-DNA (aDNA) anhand von Präparaten der meckelschen Sammlungen zu halle. Ann Anat 184:541-545.
-
(2002)
Ann Anat
, vol.184
, pp. 541-545
-
-
Tönnies, H.1
Klunker, R.2
Saar, K.3
Göbbel, L.4
Musil, A.5
Schultka, R.6
-
36
-
-
14844314847
-
First systematic CGH-based analyses of ancient DNA samples of malformed fetuses preserved in the Meckel Anatomical Collection in Halle/Saale, Germany
-
Tönnies H, Gerlach A, Klunker R, Schultka R, Göbbel L. 2005. First systematic CGH-based analyses of ancient DNA samples of malformed fetuses preserved in the Meckel Anatomical Collection in Halle/Saale, Germany. J Histochem Cytochem 53:381-384.
-
(2005)
J Histochem Cytochem
, vol.53
, pp. 381-384
-
-
Tönnies, H.1
Gerlach, A.2
Klunker, R.3
Schultka, R.4
Göbbel, L.5
-
39
-
-
0027176020
-
Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies
-
Zori RT, Gray BA, Bent-Williams A, Driscoll DJ, Williams CA, Zackowski JL. 1993. Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies. Am J Med Genet 46:379-383.
-
(1993)
Am J Med Genet
, vol.46
, pp. 379-383
-
-
Zori, R.T.1
Gray, B.A.2
Bent-Williams, A.3
Driscoll, D.J.4
Williams, C.A.5
Zackowski, J.L.6
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