| 1 | An atypical 7q11.23 deletion in a normal IQ Williams- Beuren syndrome patient. (19568270) | Ferrero G.B.... Merla G. | 2010 | LIMK1, ELN, GTF2IRD1 |
| 2 | The course of cognitive-behavioral development in chi ldren with the FMR1 mutation, Williams-Beuren syndrome, and neurofibromatosis t ype 1: The effect of gender. (20503326) | Fisch G.S.... Simensen R. | 2010 | FMR1 |
| 3 | Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neuroc ognitive profile. (19897463) | Antonell A.... PAcrez-Jurado L.A. | 2010 | GTF2IRD1, GTF2I |
| 4 | Williams-Beuren syndrome-associated transcription fac tor TFII-I regulates osteogenic marker genes. (19880526) | Lazebnik M.B.... Roy A.L. | 2009 | RB1, RUNX2, GTF2I |
| 5 | Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. (18398435) | Micale L.... Reymond A. | 2008 | TRIM50, TRIM74, WBSCR27 |
| 6 | Determination and functional analysis of the consensus binding site for TFII-I family member BEN, implicated in Williams-Beuren syndrome. (18326499) | Lazebnik M.B.... Roy A.L. | 2008 | GTF2IRD1, GTF2I |
| 7 | MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. (17090394) | Kirchhoff M.... Gerdes T. | 2007 | NSD1 |
| 8 | Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. (17639596) | Pober B.R.... Morris C.A. | 2007 | ELN |
| 9 | Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. (17625998) | Ferrero G.B.... Silengo M.C. | 2007 | PDLIM1 |
| 10 | Genetics and language in Williams-Beuren Syndrome: a distinct neurobehavioral disorder (17180802) | Rossi N.F.... Giacheti C.M. | 2006 | PDLIM1 |
| 11 | Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. (16532385) | Del Campo M.... Perez Jurado L.A. | 2006 | GTF2IRD2, GTF2IRD2B |
| 12 | Bilateral semilunar valve disease in a child with partial deletion of the Williams-Beuren syndrome region is associated with elastin haploinsufficiency. (16784071) | Hinton R.B.... Benson D.W. | 2006 | ELN |
| 13 | Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. (15770126) | Metcalfe K.... Tassabehji M. | 2005 | FKBP6 |
| 14 | Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. (16291141) | Singer G.... Hollwarth M.E. | 2005 | MNX1 |
| 15 | Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23. (16140988) | Antonell A.... Perez-Jurado L.A. | 2005 | TBL2 |
| 16 | Williams-Beuren syndrome critical region-5/non-T-cell activation linker: a novel target gene of AML1/ETO. (15489901) | Fliegauf M.... Lubbert M. | 2004 | HDAC9, RUNX1, RUNX1T1 |
| 17 | The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3. (15163635) | Merla G.... Reymond A. | 2004 | YWHAQ, YWHAB, YWHAZ |
| 18 | Severely calcified valvular aortic stenosis firstly diagnosed in monozygotic male twins with suspected Williams-Beuren syndrome. (15557730) | Yetkin U.... GA1rbA1z A. | 2004 | ELN |
| 19 | Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. (15388857) | Hinsley T.A.... Tassabehji M. | 2004 | GTF2I, GTF2IRD2, GTF2IRD2B |
| 20 | Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome. (15100712) | Tipney H.J.... Tassabehji M. | 2004 | GTF2I, GTF2IRD2, GTF2IRD2B |
| 21 | Long-term control of hypercalcaemia in an infant with williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate). (15303821) | Oliveri B.... Pardo Argerich L. | 2004 | PDLIM1 |
| 22 | GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats. (15243160) | Makeyev A.V.... Bayarsaihan D. | 2004 | GTF2IRD1, GTF2I, GTF2IRD2 |
| 23 | Identification of additional transcripts in the Williams-Beuren syndrome critical region. (12073013) | Merla G.... Reymond A. | 2002 | WBSCR17, WBSCR22, NSUN5 |
| 24 | Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. (12016585) | Urban Z.... Hinek A. | 2002 | ELN |
| 25 | WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. (11230181) | Cairo S.... Reymond A. | 2001 | MAX, MLX, MLXIPL |
| 26 | Anomalies of the abdominal aorta in Williams-Beuren syndrome--another cause of arterial hypertension. (11760021) | Rose C.... BA1rsch J. | 2001 | ELN |
| 27 | Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1 gene, the homologue of the human GTF2IRD1 gene hemizygously deleted in Williams-Beuren syndrome. (11352562) | Durkin M.E.... Thorgeirsson S.S. | 2001 | MYC, GTF2IRD1, CLIP2 |
| 28 | Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (11978965) | Doll A.... Grzeschik K.-H. | 2001 | ELN, WBSCR22, NSUN5 |
| 29 | Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). (11013070) | Valero M.C.... Perez Jurado L.A. | 2000 | WBSCR17 |
| 30 | Williams syndrome(Williams-Beuren syndrome), elfin face syndrome (11057222) | Ehara H. | 2000 | PDLIM1 |
| 31 | STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams- Beuren syndrome deletion. (10698974) | Pezzi N.... Barbero J.L. | 2000 | STAG3, STAG3L4, STAG3L1 |
| 32 | A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23. (10631136) | Peoples R.... Francke U. | 2000 | FKBP6 |
| 33 | WBSCR14, a putative transcription factor gene deleted in Williams- Beuren syndrome: complete characterisation of the human gene and the mouse ortholog. (10780788) | de Luis O.... Perez Jurado L.A. | 2000 | MLXIPL |
| 34 | Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor. (11124022) | Pascual J.... Wright P.E. | 2000 | BAZ1B |
| 35 | Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. (10575229) | Franke Y.... Francke U. | 1999 | GTF2IRD1 |
| 36 | Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome. (10198163) | Wang Y.K.... Francke U. | 1999 | FZD9 |
| 37 | Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. (10198167) | Osborne L.R.... Tsui L.-C. | 1999 | GTF2IRD1 |
| 38 | Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion. (9878248) | Paperna T.... Francke U. | 1998 | CLDN4, CLDN3 |
| 39 | A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. (9466987) | Perez Jurado L.A.... Francke U. | 1998 | BTK, GTF2I, GTF2IP1 |
| 40 | Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. (9858827) | Peoples R.J.... Francke U. | 1998 | BAZ1B |
| 41 | A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region. (9521869) | Wang Y.K.... Francke U. | 1998 | GTF2I |
| 42 | Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms. (9003495) | BrA... Tommerup N. | 1997 | ELN |
| 43 | Williams-Beuren syndrome. Long-term results of surgical treatments in six patients. (9201121) | Actis Dato G.M.... Di Summa M. | 1997 | PDLIM1 |
| 44 | Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. (9004128) | Joyce C.A.... Dennis N.R. | 1996 | ELN |
| 45 | Strabismus and Williams-Beuren syndrome. Presentation of 3 operated cases (8766044) | de Ancos E.... Klainguti G. | 1996 | PDLIM1 |
| 46 | Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. (7545578) | Kotzot D.... Schinzel A. | 1995 | ELN |
| 47 | Calcium metabolism in Williams-Beuren syndrome. (1333009) | Kruse K.... Wohlfahrt K. | 1992 | CALCA, CYP27B1 |
| 48 | William-Beuren syndrome: description of a case (1788114) | Bonvini G.... Pagliano-Sassi L. | 1991 | PDLIM1 |
