-
3
-
-
0020053315
-
Studies of microcephalic primordial dwarfism I: Approach to a delineation of the Seckel syndrome
-
Majewski F, Goecke T. Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am J Med Genet 1982; 12(1):7-21.
-
(1982)
Am J Med Genet
, vol.12
, Issue.1
, pp. 7-21
-
-
Majewski, F.1
Goecke, T.2
-
4
-
-
0021791281
-
Seckel syndrome: An overdiagnosed syndrome
-
Thompson E, Pembrey M. Seckel syndrome: an overdiagnosed syndrome. J Med Genet 1985; 22(3):192-201.
-
(1985)
J Med Genet
, vol.22
, Issue.3
, pp. 192-201
-
-
Thompson, E.1
Pembrey, M.2
-
5
-
-
17944382232
-
Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome
-
Kjaer I, Hansen N, Becktor KB, Birkebaek N, Balslev T. Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome. Cleft Palate Craniofac J 2001; 38(6):645-651.
-
(2001)
Cleft Palate Craniofac J
, vol.38
, Issue.6
, pp. 645-651
-
-
Kjaer, I.1
Hansen, N.2
Becktor, K.B.3
Birkebaek, N.4
Balslev, T.5
-
6
-
-
77950944711
-
Open and closed lip schizencephaly in Seckel syndrome: A case report
-
Thapa R, Mallick D, Biswas B, Ghosh A. Open and closed lip schizencephaly in Seckel syndrome: a case report. J Child Neurol 2010; 25(4):494-496.
-
(2010)
J Child Neurol
, vol.25
, Issue.4
, pp. 494-496
-
-
Thapa, R.1
Mallick, D.2
Biswas, B.3
Ghosh, A.4
-
7
-
-
76049113528
-
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements
-
Thapa R, Mukherjee K. Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. J Child Neurol 2010; 25(2):231-233.
-
(2010)
J Child Neurol
, vol.25
, Issue.2
, pp. 231-233
-
-
Thapa, R.1
Mukherjee, K.2
-
8
-
-
44949219466
-
Semilobar holoprosencephaly in Seckel syndrome
-
Kumar R, Rawal M, Agarwal S, Gathwala G. Semilobar holoprosencephaly in Seckel syndrome. Indian J Pediatr 2008; 75(5):519-520.
-
(2008)
Indian J Pediatr
, vol.75
, Issue.5
, pp. 519-520
-
-
Kumar, R.1
Rawal, M.2
Agarwal, S.3
Gathwala, G.4
-
9
-
-
33746841509
-
Neonatal hepatitis in 2 siblings with Seckel syndrome
-
Deniz K, Kontas O, akcakus M. Neonatal hepatitis in 2 siblings with Seckel syndrome. Pediatr Dev Pathol 2006; 9(1):81-85.
-
(2006)
Pediatr Dev Pathol
, vol.9
, Issue.1
, pp. 81-85
-
-
Deniz, K.1
Kontas, O.2
Akcakus, M.3
-
10
-
-
0032997070
-
Seckel-like syndrome in three siblings
-
Arnold SR, Spicer D, Kouseff B, Lacson A, Gilbert-Barness E. Seckel-like syndrome in three siblings. Pediatr Dev Pathol 1999; 2(2):180-187.
-
(1999)
Pediatr Dev Pathol
, vol.2
, Issue.2
, pp. 180-187
-
-
Arnold, S.R.1
Spicer, D.2
Kouseff, B.3
Lacson, A.4
Gilbert-Barness, E.5
-
11
-
-
33749532322
-
Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: A new variant?
-
De Coster PJ, Verbeeck RM, Holthaus V, Martens LC, Vral A. Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant? J Oral Pathol Med 2006; 35(10):639-641.
-
(2006)
J Oral Pathol Med
, vol.35
, Issue.10
, pp. 639-641
-
-
de Coster, P.J.1
Verbeeck, R.M.2
Holthaus, V.3
Martens, L.C.4
Vral, A.5
-
12
-
-
34247368941
-
Seckel syndrome and spontaneously dislocated lenses
-
Reddy S, Starr C. Seckel syndrome and spontaneously dislocated lenses. J Cataract Refract Surg 2007; 33(5):910-912.
-
(2007)
J Cataract Refract Surg
, vol.33
, Issue.5
, pp. 910-912
-
-
Reddy, S.1
Starr, C.2
-
14
-
-
2442676860
-
Seckel syndrome associated with atrioventricular canal defect: A case report
-
Ucar B, Kilic Z, Dinleyici EC, Yakut A, Dogruel N. Seckel syndrome associated with atrioventricular canal defect: a case report. Clin Dysmorphol 2004; 13(1):53-55.
-
(2004)
Clin Dysmorphol
, vol.13
, Issue.1
, pp. 53-55
-
-
Ucar, B.1
Kilic, Z.2
Dinleyici, E.C.3
Yakut, A.4
Dogruel, N.5
-
16
-
-
0242678554
-
Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients
-
Bobabilla-Morales L, Corona-Rivera A, Corona-Rivera JR, Buenrostro C, Garcia-Cobian TA, Corona-Rivera E, Cantu-Garza JM, Garcia-Cruz D. Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients. Am J Med Genet A 2003; 123A(2):148-152.
-
(2003)
Am J Med Genet A
, vol.123 A
, Issue.2
, pp. 148-152
-
-
Bobabilla-Morales, L.1
Corona-Rivera, A.2
Corona-Rivera, J.R.3
Buenrostro, C.4
Garcia-Cobian, T.A.5
Corona-Rivera, E.6
Cantu-Garza, J.M.7
Garcia-Cruz, D.8
-
17
-
-
0033597383
-
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome
-
Abou-Zahr F, Bejjani B, Kruyt FA, Kurg R, Bacino C, Shapira SK, Youssoufian H. Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. Am J Med Genet 1999; 83(5):388-391.
-
(1999)
Am J Med Genet
, vol.83
, Issue.5
, pp. 388-391
-
-
Abou-Zahr, F.1
Bejjani, B.2
Kruyt, F.A.3
Kurg, R.4
Bacino, C.5
Shapira, S.K.6
Youssoufian, H.7
-
18
-
-
10644281262
-
Seckel-like syndrome or Seckel variants?
-
Cherian MP. Seckel-like syndrome or Seckel variants? Ann Saudi Med 2004; 24(6):469-472.
-
(2004)
Ann Saudi Med
, vol.24
, Issue.6
, pp. 469-472
-
-
Cherian, M.P.1
-
19
-
-
0023278875
-
Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?
-
Butler MG, Hall BD, Maclean RN, Lozzio CB. Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? Am J Med Genet 1987; 27(3):645-649.
-
(1987)
Am J Med Genet
, vol.27
, Issue.3
, pp. 645-649
-
-
Butler, M.G.1
Hall, B.D.2
McLean, R.N.3
Lozzio, C.B.4
-
20
-
-
0027246310
-
Aplastic anemia associated with "birdheaded" dwarfism (Seckel syndrome)
-
Esperou-Bourdeau H, Leblanc T, Schaison G, Gluckman E. Aplastic anemia associated with "birdheaded" dwarfism (Seckel syndrome). Nouv Rev Fr Hematol 1993; 35(1):99-100.
-
(1993)
Nouv Rev Fr Hematol
, vol.35
, Issue.1
, pp. 99-100
-
-
Esperou-Bourdeau, H.1
Leblanc, T.2
Schaison, G.3
Gluckman, E.4
-
21
-
-
47649101216
-
Successful reduced-intensity bone marrow transplantation in a patient with bone marrow failure associated with Seckel syndrome
-
Rayburg M, Davies SM, Mehta PA, Crockett M, Jodele S. Successful reduced-intensity bone marrow transplantation in a patient with bone marrow failure associated with Seckel syndrome. Br J Haematol 2008; 142(4):675-676.
-
(2008)
Br J Haematol
, vol.142
, Issue.4
, pp. 675-676
-
-
Rayburg, M.1
Davies, S.M.2
Mehta, P.A.3
Crockett, M.4
Jodele, S.5
-
22
-
-
0028082234
-
Acute myeloid leukaemia in a patient with Seckel syndrome
-
Hayani A, Suarez CR, Molnar Z, LeBeau M, Godwin J. Acute myeloid leukaemia in a patient with Seckel syndrome. J Med Genet 1994; 31(2):148-149.
-
(1994)
J Med Genet
, vol.31
, Issue.2
, pp. 148-149
-
-
Hayani, A.1
Suarez, C.R.2
Molnar, Z.3
LeBeau, M.4
Godwin, J.5
-
23
-
-
0036371175
-
Growth failure in a child showing characteristics of Seckel syndrome: Possible effects of IGF-I and endogenous IGFBP-3
-
Schmidt A, Chakravarty A, Brommer E, Fenne BD, Siebler T, De Meyts P, Kiess W. Growth failure in a child showing characteristics of Seckel syndrome: possible effects of IGF-I and endogenous IGFBP-3. Clin Endocrinol (Oxf) 2002; 57(2):293-299.
-
(2002)
Clin Endocrinol (Oxf)
, vol.57
, Issue.2
, pp. 293-299
-
-
Schmidt, A.1
Chakravarty, A.2
Brommer, E.3
Fenne, B.D.4
Siebler, T.5
De Meyts, P.6
Kiess, W.7
-
24
-
-
3142710171
-
Seckel-like syndrome: A patient with precocious puberty associated with nonclassical congenital adrenal hyperplasia
-
Adiyaman P, Berberoglu M, Aycan Z, Evliyaoglu O, Ocal G. Seckel-like syndrome: a patient with precocious puberty associated with nonclassical congenital adrenal hyperplasia. J Pediatr Endocrinol Metab 2004; 17(1):105-110.
-
(2004)
J Pediatr Endocrinol Metab
, vol.17
, Issue.1
, pp. 105-110
-
-
Adiyaman, P.1
Berberoglu, M.2
Aycan, Z.3
Evliyaoglu, O.4
Ocal, G.5
-
25
-
-
55149098736
-
Perinatal findings of Seckel syndrome: A case report of a fetus showing primordial dwarfism and severe microcephaly
-
Takikawa KM, Kikuchi A, Yokoyama A, Ono K, Iwasawa Y, Sunagawa S, Takagi K, Kawame H, Nakamura T. Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly. Fetal Diagn Ther 2008; 24(4):405-408.
-
(2008)
Fetal Diagn Ther
, vol.24
, Issue.4
, pp. 405-408
-
-
Takikawa, K.M.1
Kikuchi, A.2
Yokoyama, A.3
Ono, K.4
Iwasawa, Y.5
Sunagawa, S.6
Takagi, K.7
Kawame, H.8
Nakamura, T.9
-
26
-
-
0023183324
-
Microcephaly, micrognathia, and bird-headed dwarfism: Prenatal diagnosis of a Seckel-like syndrome
-
Majoor-Krakauer DF, Wladimiroff JW, Stewart PA, van de Harten JJ, Niermeijer MF. Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome. Am J Med Genet 1987; 27(1):183-188.
-
(1987)
Am J Med Genet
, vol.27
, Issue.1
, pp. 183-188
-
-
Majoor-Krakauer, D.F.1
Wladimiroff, J.W.2
Stewart, P.A.3
van de Harten, J.J.4
Niermeijer, M.F.5
-
27
-
-
70350238451
-
Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families
-
Willems M, Genevieve D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Heron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families. J Med Genet 2009.
-
(2009)
J Med Genet
-
-
Willems, M.1
Genevieve, D.2
Borck, G.3
Baumann, C.4
Baujat, G.5
Bieth, E.6
Edery, P.7
Farra, C.8
Gerard, M.9
Heron, D.10
Leheup, B.11
le Merrer, M.12
Lyonnet, S.13
Martin-Coignard, D.14
Mathieu, M.15
Thauvin-Robinet, C.16
Verloes, A.17
Colleaux, L.18
Munnich, A.19
Cormier-Daire, V.20
more..
-
28
-
-
4344631651
-
Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings
-
Hall JG, Flora C, Scott CI, Jr., Pauli RM, Tanaka KI. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A 2004; 130A(1):55-72.
-
(2004)
Am J Med Genet A
, vol.130 A
, Issue.1
, pp. 55-72
-
-
Hall, J.G.1
Flora, C.2
Scott Jr., C.I.3
Pauli, R.M.4
Tanaka, K.I.5
-
29
-
-
33745231382
-
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: Application to Taybi-Linder syndrome
-
Leutenegger AL, Labalme A, Genin E, Toutain A, Steichen E, Clerget-Darpoux F, Edery P. Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. Am J Hum Genet 2006; 79(1):62-66.
-
(2006)
Am J Hum Genet
, vol.79
, Issue.1
, pp. 62-66
-
-
Leutenegger, A.L.1
Labalme, A.2
Genin, E.3
Toutain, A.4
Steichen, E.5
Clerget-Darpoux, F.6
Edery, P.7
-
30
-
-
0032758850
-
The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
-
Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999; 36(11):837-842.
-
(1999)
J Med Genet
, vol.36
, Issue.11
, pp. 837-842
-
-
Price, S.M.1
Stanhope, R.2
Garrett, C.3
Preece, M.A.4
Trembath, R.C.5
-
31
-
-
62149105139
-
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes
-
Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet 2009; 46(3):192-197.
-
(2009)
J Med Genet
, vol.46
, Issue.3
, pp. 192-197
-
-
Bartholdi, D.1
Krajewska-Walasek, M.2
Ounap, K.3
Gaspar, H.4
Chrzanowska, K.H.5
Ilyana, H.6
Kayserili, H.7
Lurie, I.W.8
Schinzel, A.9
Baumer, A.10
-
32
-
-
0030941125
-
Central nervous system anomalies in Seckel syndrome: Report of a new family and review of the literature
-
Shanske A, Caride DG, Menasse-Palmer L, Bogdanow A, Marion RW. Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. Am J Med Genet 1997; 70(2):155-158.
-
(1997)
Am J Med Genet
, vol.70
, Issue.2
, pp. 155-158
-
-
Shanske, A.1
Caride, D.G.2
Menasse-Palmer, L.3
Bogdanow, A.4
Marion, R.W.5
-
33
-
-
18644367647
-
Clinical and genetic heterogeneity of Seckel syndrome
-
Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V. Clinical and genetic heterogeneity of Seckel syndrome. Am J Med Genet 2002; 112(4):379-383.
-
(2002)
Am J Med Genet
, vol.112
, Issue.4
, pp. 379-383
-
-
Faivre, L.1
le Merrer, M.2
Lyonnet, S.3
Plauchu, H.4
Dagoneau, N.5
Campos-Xavier, A.B.6
Attia-Sobol, J.7
Verloes, A.8
Munnich, A.9
Cormier-Daire, V.10
-
34
-
-
0033853562
-
Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24
-
Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M. Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24. Am J Hum Genet 2000; 67(2):498-503.
-
(2000)
Am J Hum Genet
, vol.67
, Issue.2
, pp. 498-503
-
-
Goodship, J.1
Gill, H.2
Carter, J.3
Jackson, A.4
Splitt, M.5
Wright, M.6
-
35
-
-
0345073699
-
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
-
O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet 2003; 33(4):497-501.
-
(2003)
Nat Genet
, vol.33
, Issue.4
, pp. 497-501
-
-
O'Driscoll, M.1
Ruiz-Perez, V.L.2
Woods, C.G.3
Jeggo, P.A.4
Goodship, J.A.5
-
36
-
-
11044234004
-
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway
-
Alderton GK, Joenje H, Varon R, Borglum AD, Jeggo PA, O'Driscoll M. Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. Hum Mol Genet 2004; 13(24):3127-3138.
-
(2004)
Hum Mol Genet
, vol.13
, Issue.24
, pp. 3127-3138
-
-
Alderton, G.K.1
Joenje, H.2
Varon, R.3
Borglum, A.D.4
Jeggo, P.A.5
O'Driscoll, M.6
-
37
-
-
0034750010
-
A new locus for Seckel syndrome on chromosome 18p11.31-q11.2
-
Borglum AD, Balslev T, Haagerup A, Birkebaek N, Binderup H, Kruse TA, Hertz JM. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. Eur J Hum Genet 2001; 9(10):753-757.
-
(2001)
Eur J Hum Genet
, vol.9
, Issue.10
, pp. 753-757
-
-
Borglum, A.D.1
Balslev, T.2
Haagerup, A.3
Birkebaek, N.4
Binderup, H.5
Kruse, T.A.6
Hertz, J.M.7
-
38
-
-
0242441476
-
Is the novel SCKL3 at 14q23 the predominant Seckel locus?
-
Kilinc MO, Ninis VN, Ugur SA, Tuysuz B, Seven M, Balci S, Goodship J, Tolun A. Is the novel SCKL3 at 14q23 the predominant Seckel locus? Eur J Hum Genet 2003; 11(11):851-857.
-
(2003)
Eur J Hum Genet
, vol.11
, Issue.11
, pp. 851-857
-
-
Kilinc, M.O.1
Ninis, V.N.2
Ugur, S.A.3
Tuysuz, B.4
Seven, M.5
Balci, S.6
Goodship, J.7
Tolun, A.8
-
39
-
-
70449428136
-
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene
-
Piane M, Della MM, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. Am J Med Genet A 2009; 149A(11):2452-2456.
-
(2009)
Am J Med Genet A
, vol.149 A
, Issue.11
, pp. 2452-2456
-
-
Piane, M.1
Della, M.M.2
Piatelli, G.3
Lulli, P.4
Lonardo, F.5
Chessa, L.6
Scarano, G.7
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