Citations for
1WHSC1, WHSCR
Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.
Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K.
Am J Med Genet A 152A(4):1028-32. No abstract available. PMID: 20358621 2010
2FGFRL1, WHSC1, WHSCR
Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
Engbers H, van der Smagt JJ, van 't Slot R, Vermeesch JR, Hochstenbach R, Poot M.
Eur J Hum Genet 17(1):129-32. Epub 2008 Oct 1. 2009
3NKX2-5, WHSC1, WHSCR
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome.
Nimura K, Ura K, Shiratori H, Ikawa M, Okabe M, Schwartz RJ, Kaneda Y.
Nature 460(7252):287-91. Epub 2009 May 31. 2009
4WHS, WHSCR
Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision.
Battaglia A, Filippi T, Carey JC.
Am J Med Genet C Semin Med Genet 148C(4):246-51. 2008
5WHS, WHSCR
Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.
South ST, Hannes F, Fisch GS, Vermeesch JR, Zollino M.
Am J Med Genet C Semin Med Genet 148C(4):270-4. 2008
6WHS, WHSCR
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G.
Am J Med Genet C Semin Med Genet 148C(4):257-69. 2008
7WHS, WHSCR
Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation.
South ST, Bleyl SB, Carey JC.
Am J Med Genet A 143(18):2137-42. 2007
8LETM1, NELFA, WHS, WHSC1, WHSCR
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): A description of a second case.
Rodriguez L, Zollino M, Climent S, Mansilla E, Lopez-Grondona F, Martinez-Fernandez ML, Murdolo M, Martinez-Frias ML.
Am J Med Genet A 136(2):175-8. 2005
9LETM1, WHS, WHSCR
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
Schlickum S, Moghekar A, Simpson JC, Steglich C, O'Brien RJ, Winterpacht A, Endele SU.
Genomics 83(2):254-61. 2004
10WHS, WHSCR
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.
Van Buggenhout G, Melotte C, Dutta B, Froyen G, Van Hummelen P, Marynen P, Matthijs G, de Ravel T, Devriendt K, Fryns JP, Vermeesch JR.
J Med Genet 41(9):691-8. 2004
11LETM1, WHSCR, WHS
The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome.
Nowikovsky K, Froschauer EM, Zsurka G, Samaj J, Reipert S, Kolisek M, Wiesenberger G, Schweyen RJ.
J Biol Chem 279(29):30307-15. Epub 2004 May 11. 2004
12WHS, WHSCR
Electroclinical patterns and evolution of epilepsy in the 4p- syndrome.
Battaglia D, Zampino G, Zollino M, Mariotti P, Acquafondata C, Lettori D, Pane M, Vasta I, Neri G, Dravet C, Guzzetta F.
Epilepsia 44(9):1183-90. 2003
13WHS, WHSCR, LETM1
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.
Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Butte C, Memo L, Capovilla G, Neri G.
Am J Hum Genet 72(3):590-7. 2003
14MSX1, WHSCR, WHS
MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia.
Nieminen P, Kotilainen J, Aalto Y, Knuutila S, Pirinen S, Thesleff I.
J Dent Res 82(12):1013-7. 2003
15INVDUPDEL8P, WHS, WHSCR
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.
Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O.
Am J Hum Genet 71(2):276-85. Epub 2002 Jun 10. 2002
16DCS, NELFA, WHS, WHSCR
First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.
Rauch A, Schellmoser S, Kraus C, Dorr HG, Trautmann U, Altherr MR, Pfeiffer RA, Reis A.
Am J Med Genet 99(4):338-42. 2001
17WHS, WHSCR
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G.
Eur J Hum Genet 8(7):519-26. 2000
18WHS, WHSCR
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).
Wieczorek D, Krause M, Majewski F, Albrecht B, Meinecke P, Riess O, Gillessen-Kaesbach G.
J Med Genet 37(10):798-804. 2000
19WHS, WHSCR
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappala A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G.
Am J Med Genet 94(3):254-61. 2000
20WHS, WHSCR
Tandem duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.
Zollino M, et al.
Am J Med Genet 82 : 371-375. 1999
21IMC1@, NELFA, PRDS1, WHS, WHSCR
Comparative analysis of a novel gene from the wolf-Hirschhorn/Pitt-rogers-danks syndrome critical region.
Wright TJ, et al.
Genomics 59(2):203-12. 1999
22LETM1, WHS, WHSCR
LETM1, A novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the wolf-hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.
Endele S, et al.
Genomics 60(2):218-25 1999
23PRDS1, WHS, WHSCR
Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions.
Wright TJ, Clemens M, Quarrell O, Altherr MR.
Am J Med Genet 75(4):345-50. 1998
24PRDS1, WHS, WHSCR
Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome.
Battaglia A, Carey JC.
Am J Med Genet 75(5):541. 1998
25WHS, WHSCR, WHSC1
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.
Stec I, et al.
Hum Mol Genet 7 : 1071-1082. 1998
26WHS, WHSCR
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.
Wright TJ, et al.
Hum Mol Genet 6 : 317-324. 1997
27PRDS1, WHS, WHSCR
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.
Kant SG, Van Haeringen A, Bakker E, Stec I, Donnai D, Mollevanger P, Beverstock GC, Lindeman-Kusse MC, Van Ommen GJ.
J Med Genet 34(7):569-72. 1997
28WHS, WHSCR
Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs.
Altherr MR, Wright TJ, Denison K, Perez-Castro AV, Johnson VP.
Am J Med Genet 71(1):47-53. 1997
29WHS, WHSCR
High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome.
Fang YY, Bain S, Haan EA, Eyre HJ, MacDonald M, Wright TJ, Altherr MR, Riess O, Sutherland G, Callen DF.
Am J Med Genet 71(4):453-7. 1997
30WHS, WHSCR
On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion : evidence of a contiguous gene deletion syndrome.
Petit P, et al.
Clin Genet 50 : 19-22. 1996
31DEL22Q11, WHS, WHSCR
Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22)(p16.3;q11.2)mat,-22.
Reddy KS, et al.
J Med Genet 33 : 852-855. 1996
32WHS, WHSCR, PRDS1
Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.
Clemens M, Martsolf JT, Rogers JG, Mowery-Rushton P, Surti U, McPherson E.
Am J Med Genet 66(1):95-100. 1996
33WHS, WHSCR
A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.
El-Rifai W, et al.
J Med Genet 32 : 65-67. 1995
34WHS, WHSCR
Syndrome of proximal interstitial deletion 4p15 : report of three cases and review of the literature.
Chitayat D, et al.
Am J Med Genet 55 : 147-154. 1995
35WHS, WHSCR
Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome.
Estabrooks LL, et al.
J Med Genet 31 : 103-107. 1994
36D4F26S1, WHS, WHSCR
FISH detection of Wolf-Hirschhorn syndrome : Exclusion of D4F26 as critical site.
Johnson VP, et al.
Am J Med Genet 52 : 70-74. 1994
37WHS, WHSCR, ZNF141
A zinc-finger gene ZNF141 mapping at 4p 16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome.
Tommerup N, et al.
Hum Mol Genet 2 : 1571-1575. 1993
38WHS, WHSCR
Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.
Tupler R, et al.
J Med Genet 29 : 53-55. 1992
39WHS, WHSCR
Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome.
Gandelman KY, et al.
Am J Hum Genet 51 : 571-578. 1992
40WHS, WHSCR
Paternal origin of the chromosomal deletion resulting in Wolf-Hirschorn syndrome.
Quarrel OWJ, et al.
J Med Genet 28 : 256-259. 1991
41WHS, WHSCR
Critical region responsible for the Wolf-Hirschhorn syndrome : 2Mb distal to D4S43.
Gandelman K, et al.
Am J Hum Genet 49S : 310. 1991
42WHS, WHSCR
Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the critical segment towards the telomere.
Anvret M, et al.
Hum Genet 86 : 481-483. 1991
43MSX1, WHS, WHSCR
The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome.
Ivens A, et al.
Hum Genet 84 : 473-476. 1990
44D4S10, WHS, WHSCR
Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4.
McKeown C, et al.
J Med Genet 24 : 410-412. 1987
45WHS, WHSCR
Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates.
Stengel-Rutkowski S, et al.
Clin Genet 25 : 500-521. 1984