155 related articles for article (PubMed ID: 12567416)
1. Oligoyric microcephaly in a child with Williams syndrome.
Faravelli F; D'Arrigo S; Bagnasco I; Selicorni A; D'Incerti L; Riva D; Pantaleoni C
Am J Med Genet A; 2003 Mar; 117A(2):169-71. PubMed ID: 12567416
[TBL] [Abstract][Full Text] [Related]
2. Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.
Busche A; Graul-Neumann LM; Zweier C; Rauch A; Klopocki E; Horn D
Eur J Med Genet; 2011; 54(3):256-61. PubMed ID: 21333765
[TBL] [Abstract][Full Text] [Related]
3. Williams-Beuren syndrome and West "syndrome:" causal association or contiguous gene deletion syndrome?
Tercero MF; Cabrera López JC; Herrero MM; Rodríguez-Quiñones F
Am J Med Genet A; 2005 Mar; 133A(2):213-5. PubMed ID: 15633183
[No Abstract] [Full Text] [Related]
4. Molecular cytogenetic diagnosis of Williams syndrome.
Hirota H; Matsuoka R; Kimura M; Imamura S; Joh-o K; Ando M; Takao A; Momma K
Am J Med Genet; 1996 Aug; 64(3):473-7. PubMed ID: 8862624
[TBL] [Abstract][Full Text] [Related]
5. Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome.
Hou JW; Wang JK; Wang TR
J Formos Med Assoc; 1997 Feb; 96(2):137-40. PubMed ID: 9071842
[TBL] [Abstract][Full Text] [Related]
6. Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.
de Ru MH; Gille JJ; Nieuwint AW; Bijlsma JB; van der Blij JF; van Hagen JM
Am J Med Genet A; 2005 Aug; 137(1):81-7. PubMed ID: 16015581
[TBL] [Abstract][Full Text] [Related]
7. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.
Botta A; Novelli G; Mari A; Novelli A; Sabani M; Korenberg J; Osborne LR; Digilio MC; Giannotti A; Dallapiccola B
J Med Genet; 1999 Jun; 36(6):478-80. PubMed ID: 10874638
[TBL] [Abstract][Full Text] [Related]
8. Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome.
Leme DE; Souza DH; Mercado G; Pastene E; Dias A; Moretti-Ferreira D
Genet Mol Res; 2013 Sep; 12(3):3407-11. PubMed ID: 24065682
[TBL] [Abstract][Full Text] [Related]
9. Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome.
Wouters CH; Meijers-Heijboer HJ; Eussen BJ; van der Heide AA; van Luijk RB; van Drunen E; Beverloo BB; Visscher F; Van Hemel JO
Am J Med Genet; 2001 Aug; 102(3):261-5. PubMed ID: 11484204
[TBL] [Abstract][Full Text] [Related]
10. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.
Lowery MC; Morris CA; Ewart A; Brothman LJ; Zhu XL; Leonard CO; Carey JC; Keating M; Brothman AR
Am J Hum Genet; 1995 Jul; 57(1):49-53. PubMed ID: 7611295
[TBL] [Abstract][Full Text] [Related]
11. Williams-Beuren Syndrome and Burkitt Leukemia.
Zhukova N; Naqvi A
J Pediatr Hematol Oncol; 2013 Jan; 35(1):e30-2. PubMed ID: 23018576
[TBL] [Abstract][Full Text] [Related]
12. Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.
Brewer CM; Morrison N; Tolmie JL
Arch Dis Child; 1996 Jan; 74(1):59-61. PubMed ID: 8660051
[TBL] [Abstract][Full Text] [Related]
13. Autism and Williams syndrome: a case report.
Herguner S; Mukaddes NM
World J Biol Psychiatry; 2006; 7(3):186-8. PubMed ID: 16861145
[TBL] [Abstract][Full Text] [Related]
14. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
Joyce CA; Zorich B; Pike SJ; Barber JC; Dennis NR
J Med Genet; 1996 Dec; 33(12):986-92. PubMed ID: 9004128
[TBL] [Abstract][Full Text] [Related]
15. Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.
Callier P; Faivre L; Cusin V; Marle N; Thauvin-Robinet C; Sandre D; Rousseau T; Sagot P; Lacombe E; Faber V; Mugneret F
Am J Med Genet A; 2005 Aug; 137(2):204-7. PubMed ID: 16059936
[TBL] [Abstract][Full Text] [Related]
16. Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies.
Riegel M; Morava E; Czakó M; Kosztolányi G; Schinzel A
Am J Med Genet; 2001 Aug; 102(3):227-30. PubMed ID: 11484198
[TBL] [Abstract][Full Text] [Related]
17. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
Dutra RL; Piazzon FB; Zanardo ÉA; Costa TV; Montenegro MM; Novo-Filho GM; Dias AT; Nascimento AM; Kim CA; Kulikowski LD
Am J Med Genet A; 2015 Dec; 167A(12):3197-203. PubMed ID: 26420477
[TBL] [Abstract][Full Text] [Related]
18. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
Wu YQ; Sutton VR; Nickerson E; Lupski JR; Potocki L; Korenberg JR; Greenberg F; Tassabehji M; Shaffer LG
Am J Med Genet; 1998 Jun; 78(1):82-9. PubMed ID: 9637430
[TBL] [Abstract][Full Text] [Related]
19. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.
Pérez Jurado LA; Peoples R; Kaplan P; Hamel BC; Francke U
Am J Hum Genet; 1996 Oct; 59(4):781-92. PubMed ID: 8808592
[TBL] [Abstract][Full Text] [Related]
20. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.
Brøndum-Nielsen K; Beck B; Gyftodimou J; Hørlyk H; Liljenberg U; Petersen MB; Pedersen W; Petersen MB; Sand A; Skovby F; Stafanger G; Zetterqvist P; Tommerup N
Hum Genet; 1997 Jan; 99(1):56-61. PubMed ID: 9003495
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
