-
1
-
-
33644864589
-
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies
-
BALCI S., ENGIZ O., AKTAS D., VARGEL I., BEKSAC M.S., MRASEK K., VERMEESCH J., LIEHR T.: Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. Am. .J Med. Genet. A, 2006, 140, 628-632.
-
(2006)
Am. .J Med. Genet. A
, vol.140
, pp. 628-632
-
-
BALCI, S.1
ENGIZ, O.2
AKTAS, D.3
VARGEL, I.4
BEKSAC, M.S.5
MRASEK, K.6
VERMEESCH, J.7
LIEHR, T.8
-
2
-
-
21844452724
-
Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype
-
BEAUJARD M.P., JOUANNIC J.M., BESSIERES B., BORIE C., MARTIN-LUIS I., FALLET-BIANCO C., PORTNOI M.F.: Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype. Prenat. Diagn., 2005, 25, 451-455.
-
(2005)
Prenat. Diagn
, vol.25
, pp. 451-455
-
-
BEAUJARD, M.P.1
JOUANNIC, J.M.2
BESSIERES, B.3
BORIE, C.4
MARTIN-LUIS, I.5
FALLET-BIANCO, C.6
PORTNOI, M.F.7
-
3
-
-
2942568151
-
Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23. 1)): Case report and review of terminal 8p deletions
-
BOSSE K., EGGERMANN T., VAN DER VEN K., RAFF R., ENGELS H., SCHWANITZ G.: Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23. 1)): case report and review of terminal 8p deletions. Ann. Genet., 2004, 47, 191-197.
-
(2004)
Ann. Genet
, vol.47
, pp. 191-197
-
-
BOSSE, K.1
EGGERMANN, T.2
VAN DER VEN, K.3
RAFF, R.4
ENGELS, H.5
SCHWANITZ, G.6
-
4
-
-
0031725482
-
De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia
-
CHEN C.P., CHERN S.R., LEE C.C., CHEN W.L., CHEN M.H., CHANG K.M.: De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia. J. Med. Genet., 1998, 35, 1050-1053.
-
(1998)
J. Med. Genet
, vol.35
, pp. 1050-1053
-
-
CHEN, C.P.1
CHERN, S.R.2
LEE, C.C.3
CHEN, W.L.4
CHEN, M.H.5
CHANG, K.M.6
-
5
-
-
0035934003
-
Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4
-
COTTER P.D., KAFFE S., LI L., GERSHIN I.F., HIRSCHHORN K.: Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4. Am. J. Med. Genet., 2001, 102, 76-80.
-
(2001)
Am. J. Med. Genet
, vol.102
, pp. 76-80
-
-
COTTER, P.D.1
KAFFE, S.2
LI, L.3
GERSHIN, I.F.4
HIRSCHHORN, K.5
-
6
-
-
0034092386
-
Fine molecular mapping of the 4p16.3 aneuploidy syndromes in four translocation families
-
FAGAN K., SOUBJAKI V., DONALD P., TURNER G., PARTINGTON M.: Fine molecular mapping of the 4p16.3 aneuploidy syndromes in four translocation families. J. Med. Genet., 2000, 37, 449-451.
-
(2000)
J. Med. Genet
, vol.37
, pp. 449-451
-
-
FAGAN, K.1
SOUBJAKI, V.2
DONALD, P.3
TURNER, G.4
PARTINGTON, M.5
-
7
-
-
0037376804
-
DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones
-
FIEGLER H., CARR P., DOUGLAS E.J., BURFORD D.C., HUNT S., SCOTT C.E., SMITH J., VETRIE D., GORMAN P., TOMLINSON I.P., CARTER N.P.: DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer, 2003, 36, 361-374.
-
(2003)
Genes Chromosomes Cancer
, vol.36
, pp. 361-374
-
-
FIEGLER, H.1
CARR, P.2
DOUGLAS, E.J.3
BURFORD, D.C.4
HUNT, S.5
SCOTT, C.E.6
SMITH, J.7
VETRIE, D.8
GORMAN, P.9
TOMLINSON, I.P.10
CARTER, N.P.11
-
8
-
-
0031825222
-
-
FRYNS J.P., SMEETS E., DEVRIENDT K., PETIT P.: Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother. Ann. Genet., 1998, 41, 73-76.
-
FRYNS J.P., SMEETS E., DEVRIENDT K., PETIT P.: Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother. Ann. Genet., 1998, 41, 73-76.
-
-
-
-
9
-
-
0035071955
-
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
-
GIGLIO S., BROMAN K.W., MATSUMOTO N., CALVARI V., GIMELLI G., NEUMANN T., OHASHI H., VOULLAIRE L., LARIZZA D., GIORDA R., WEBER J.L., LEDBETTER D.H., ZUFFARDI O.: Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am. J. Hum. Genet., 2001,68, 874-883.
-
(2001)
Am. J. Hum. Genet
, vol.68
, pp. 874-883
-
-
GIGLIO, S.1
BROMAN, K.W.2
MATSUMOTO, N.3
CALVARI, V.4
GIMELLI, G.5
NEUMANN, T.6
OHASHI, H.7
VOULLAIRE, L.8
LARIZZA, D.9
GIORDA, R.10
WEBER, J.L.11
LEDBETTER, D.H.12
ZUFFARDI, O.13
-
10
-
-
0036071427
-
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.: Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am. J. Hum. Genet., 2002, 71, 276-285.
-
(2002)
Am. J. Hum. Genet
, vol.71
, pp. 276-285
-
-
GIGLIO, S.1
CALVARI, V.2
GREGATO, G.3
GIMELLI, G.4
CAMANINI, S.5
GIORDA, R.6
RAGUSA, A.7
GUERNERI, S.8
SELICORNI, A.9
STUMM, M.10
TONNIES, H.11
VENTURA, M.12
ZOLLINO, M.13
NERI, G.14
BARBER, J.15
WIECZOREK, D.16
ROCCHI, M.17
ZUFFARDI, O.18
-
11
-
-
0035001936
-
-
GLUSMAN G., YANAI I., RUBIN I., LANCET D.: The complete human olfactory subgenome. Genome Res., 2001, 11, 685-702.
-
GLUSMAN G., YANAI I., RUBIN I., LANCET D.: The complete human olfactory subgenome. Genome Res., 2001, 11, 685-702.
-
-
-
-
12
-
-
0041821830
-
-
KONDOH Y., TOMA T., OHASHI H., HARADA N., YOSHIURA K., OHTA T., KISHINO T., NIIKAWA N., MATSUMOTO N.: Inv dup del(4)(:p14 - > p16.3::p16.3 - > qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. Am. J. Med. Genet. A, 2003, 120, 123-126.
-
KONDOH Y., TOMA T., OHASHI H., HARADA N., YOSHIURA K., OHTA T., KISHINO T., NIIKAWA N., MATSUMOTO N.: Inv dup del(4)(:p14 - > p16.3::p16.3 - > qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. Am. J. Med. Genet. A, 2003, 120, 123-126.
-
-
-
-
13
-
-
0035509701
-
Long AT-rich palindromes and the constitutional t(11;22) breakpoint
-
KURAHASHI H., EMANUEL B.S.: Long AT-rich palindromes and the constitutional t(11;22) breakpoint. Hum. Mol. Genet., 2001, 10, 2605-2617.
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 2605-2617
-
-
KURAHASHI, H.1
EMANUEL, B.S.2
-
14
-
-
33750135202
-
Wolf Hirshhorn syndrome in a case of ring chromosome 4: Phenotype and molecular cytogenetic findings
-
LALEYE A., ALAO M.J., ADJAGBA M., HANS C., DELNESTE D., GNAMEY D.K., AYIVI B., DARBOUX R.B.: Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings. Genet. Couns., 2006, 17, 35-40.
-
(2006)
Genet. Couns
, vol.17
, pp. 35-40
-
-
LALEYE, A.1
ALAO, M.J.2
ADJAGBA, M.3
HANS, C.4
DELNESTE, D.5
GNAMEY, D.K.6
AYIVI, B.7
DARBOUX, R.B.8
-
15
-
-
33747054494
-
-
MENTEN B., MAAS N., THIENPONT B., BUYSSE K., VANDESOMPELE J., MELOTTE C., DE RAVEL T., VAN VOOREN S., BALIKOVA I., BACKX L., JANSSENS S., DE PAEPE A., DE MOOR B., MOREAU Y., MARYNEN P., FRYNS J.P., MORTIER G., DEVRIENDT K., SPELEMAN F., VERMEESCH J.R.: Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J. Med. Genet., 2006, 43, 625-633.
-
MENTEN B., MAAS N., THIENPONT B., BUYSSE K., VANDESOMPELE J., MELOTTE C., DE RAVEL T., VAN VOOREN S., BALIKOVA I., BACKX L., JANSSENS S., DE PAEPE A., DE MOOR B., MOREAU Y., MARYNEN P., FRYNS J.P., MORTIER G., DEVRIENDT K., SPELEMAN F., VERMEESCH J.R.: Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J. Med. Genet., 2006, 43, 625-633.
-
-
-
-
16
-
-
0030883748
-
Translocations involving 4p16.3 in three families: Deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome
-
PARTINGTON M.W., FAGAN K., SOUBJAKI V., TURNER G.: Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome. J. Med. Genet., 1997, 34, 719-728.
-
(1997)
J. Med. Genet
, vol.34
, pp. 719-728
-
-
PARTINGTON, M.W.1
FAGAN, K.2
SOUBJAKI, V.3
TURNER, G.4
-
17
-
-
0031780949
-
-
PETIT P., VERMEESCH J.R., FRYNS J.P.: Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8) (p16.3;p23.1). Genet. Couns., 1998, 9, 157-158.
-
PETIT P., VERMEESCH J.R., FRYNS J.P.: Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8) (p16.3;p23.1). Genet. Couns., 1998, 9, 157-158.
-
-
-
-
18
-
-
0029963475
-
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 K.S., SULCOVA V., SIASSI B.: 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. J. Med. Genet., 1996, 33, 852-855.
-
(1996)
J. Med. Genet
, vol.33
, pp. 852-855
-
-
REDDY, K.S.1
SULCOVA, V.2
SIASSI, B.3
-
19
-
-
33751329250
-
-
REDON R., ISHIKAWA S., FITCH K.R., FEUK L., PERRY G.H., ANDREWS T.D., FIEGLER H., SHAPERO M.H., CARSON A.R., CHEN W., CHO E.K., DALLAIRE S., FREEMAN J.L., GONZALEZ J.R., GRATACOS M., HUANG J., KALAITZOPOULOS D., KOMURA D., MACDONALD J.R., MARSHALL C.R., MEI R., MONTGOMERY L., NISHIMURA K., OKAMURA K., SHEN F., SOMERVILLE M.J., TCHINDA J., VALSESIA A., WOODWARK C., YANG F., ZHANG J., ZERJAL T., ZHANG J., ARMENGOL L., CONRAD D.F., ESTIVILL X., TYLER-SMITH C., CARTER N.P., ABURATANI H., LEE C., JONES K.W., SCHERER S.W., HURLES M.E.: Global variation in copy number in the human genome. Nature, 2006, 444, 444-454.
-
REDON R., ISHIKAWA S., FITCH K.R., FEUK L., PERRY G.H., ANDREWS T.D., FIEGLER H., SHAPERO M.H., CARSON A.R., CHEN W., CHO E.K., DALLAIRE S., FREEMAN J.L., GONZALEZ J.R., GRATACOS M., HUANG J., KALAITZOPOULOS D., KOMURA D., MACDONALD J.R., MARSHALL C.R., MEI R., MONTGOMERY L., NISHIMURA K., OKAMURA K., SHEN F., SOMERVILLE M.J., TCHINDA J., VALSESIA A., WOODWARK C., YANG F., ZHANG J., ZERJAL T., ZHANG J., ARMENGOL L., CONRAD D.F., ESTIVILL X., TYLER-SMITH C., CARTER N.P., ABURATANI H., LEE C., JONES K.W., SCHERER S.W., HURLES M.E.: Global variation in copy number in the human genome. Nature, 2006, 444, 444-454.
-
-
-
-
21
-
-
0034020416
-
PipMaker - a web server for aligning two genomic DNA sequences
-
SCHWARTZ S., ZHANG Z., FRAZER K.A., SMIT A., RIEMER C., BOUCK J., GIBBS R., HARDISON R., MILLER W.: PipMaker - a web server for aligning two genomic DNA sequences. Genome Res., 2000, 10, 577-586.
-
(2000)
Genome Res
, vol.10
, pp. 577-586
-
-
SCHWARTZ, S.1
ZHANG, Z.2
FRAZER, K.A.3
SMIT, A.4
RIEMER, C.5
BOUCK, J.6
GIBBS, R.7
HARDISON, R.8
MILLER, W.9
-
22
-
-
4444327111
-
Molecular characterization of inv dup del(8p): Analysis of five cases
-
SHIMOKAWA O., KUROSAWA K., IDA T., HARADA N., KONDOH T., MIYAKE N., YOSHIURA K., KISHINO T., OHTA T., NIIKAWA N., MATSUMOTO N.: Molecular characterization of inv dup del(8p): analysis of five cases. Am. J. Med. Genet. A, 2004, 128, 133-137.
-
(2004)
Am. J. Med. Genet. A
, vol.128
, pp. 133-137
-
-
SHIMOKAWA, O.1
KUROSAWA, K.2
IDA, T.3
HARADA, N.4
KONDOH, T.5
MIYAKE, N.6
YOSHIURA, K.7
KISHINO, T.8
OHTA, T.9
NIIKAWA, N.10
MATSUMOTO, N.11
-
23
-
-
21644454003
-
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
-
SHIMOKAWA O., MIYAKE N., YOSHIMURA T., SOSONKINA N., HARADA N., MIZUGUCHI T., KONDOH S., KISHINO T., OHTA T., REMCO V., TAKASHIMA T., KINOSHITA A., YOSHIURA K., NIIKAWA N., MATSUMOTO N.: Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am. J. Med. Genet. A, 2005, 136, 49-51.
-
(2005)
Am. J. Med. Genet. A
, vol.136
, pp. 49-51
-
-
SHIMOKAWA, O.1
MIYAKE, N.2
YOSHIMURA, T.3
SOSONKINA, N.4
HARADA, N.5
MIZUGUCHI, T.6
KONDOH, S.7
KISHINO, T.8
OHTA, T.9
REMCO, V.10
TAKASHIMA, T.11
KINOSHITA, A.12
YOSHIURA, K.13
NIIKAWA, N.14
MATSUMOTO, N.15
-
24
-
-
0034672585
-
-
SOSINSKY A., GLUSMAN G., LANCET D.: The genomic structure of human olfactory receptor genes. Genomics, 2000, 70, 49-61.
-
SOSINSKY A., GLUSMAN G., LANCET D.: The genomic structure of human olfactory receptor genes. Genomics, 2000, 70, 49-61.
-
-
-
-
25
-
-
0035576069
-
Unusual chromosomal mosaicism in Wolf-Hirschhom syndrome: Del(4)(p16)/der(4)(qter-q31.3:: pter-qter)
-
SYRROU M., BORGHGRAEF M., FRYNS J.P.: Unusual chromosomal mosaicism in Wolf-Hirschhom syndrome: del(4)(p16)/der(4)(qter-q31.3:: pter-qter). Am. J. Med. Genet., 2001, 104, 199-203.
-
(2001)
Am. J. Med. Genet
, vol.104
, pp. 199-203
-
-
SYRROU, M.1
BORGHGRAEF, M.2
FRYNS, J.P.3
-
26
-
-
0036977384
-
Prenatal diagnosis of a fetus with unbalanced translocation (4;13)(p16;q32) with overlapping features of Patau and Wolf-Hirschhorn syndromes
-
TAPPER J.K., ZHANG S., HARIRAH H.M., PANOVA N.I., MERRYMAN L.S., HAWKINS J.C., LOCKHART L.H., GEI A.B., VELAGALETI G.V.: Prenatal diagnosis of a fetus with unbalanced translocation (4;13)(p16;q32) with overlapping features of Patau and Wolf-Hirschhorn syndromes. Fetal Diagn. Ther., 2002, 17, 347-351.
-
(2002)
Fetal Diagn. Ther
, vol.17
, pp. 347-351
-
-
TAPPER, J.K.1
ZHANG, S.2
HARIRAH, H.M.3
PANOVA, N.I.4
MERRYMAN, L.S.5
HAWKINS, J.C.6
LOCKHART, L.H.7
GEI, A.B.8
VELAGALETI, G.V.9
-
27
-
-
4444242261
-
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 J.P., VERMEESCH J.R.: Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J. Med. Genet., 2004, 41, 691-698.
-
(2004)
J. Med. Genet
, vol.41
, pp. 691-698
-
-
VAN BUGGENHOUT, G.1
MELOTTE, C.2
DUTTA, B.3
FROYEN, G.4
VAN HUMMELEN, P.5
MARYNEN, P.6
MATTHIJS, G.7
DE RAVEL, T.8
DEVRIENDT, K.9
FRYNS, J.P.10
VERMEESCH, J.R.11
-
28
-
-
0033788895
-
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.: Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS). J. Med. Genet., 2000, 37, 798-804.
-
(2000)
J. Med. Genet
, vol.37
, pp. 798-804
-
-
WIECZOREK, D.1
KRAUSE, M.2
MAJEWSKI, F.3
ALBRECHT, B.4
MEINECKE, P.5
RIESS, O.6
GILLESSEN-KAESBACH, G.7
-
29
-
-
27644571041
-
7E olfactory receptor gene clusters and evolutionary chromosome rearrangements
-
YUE Y., HAAF T.: 7E olfactory receptor gene clusters and evolutionary chromosome rearrangements. Cytogenet. Genome Res., 2006, 112, 6-10.
-
(2006)
Cytogenet. Genome Res
, vol.112
, pp. 6-10
-
-
YUE, Y.1
HAAF, T.2
-
30
-
-
0037373130
-
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.: Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am. J. Hum. Genet., 2003, 72, 590-597.
-
(2003)
Am. J. Hum. Genet
, vol.72
, pp. 590-597
-
-
ZOLLINO, M.1
LECCE, R.2
FISCHETTO, R.3
MURDOLO, M.4
FARAVELLI, F.5
SELICORNI, A.6
BUTTE, C.7
MEMO, L.8
CAPOVILLA, G.9
NERI, G.10
|