Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
暂无分享，去创建一个
R. Tenconi | G. Neri | S. Savasta | G. Zampino | L. Garavelli | Y. Gyftodimou | M. Petersen | A. Selicorni | R. Fischetto | F. Faravelli | L. Mazzanti | D. Orteschi | M. Zollino | D. Battaglia | G. Sorge | G. Marangi | M. Murdolo | Laura Rodríguez | P. Cavalli | L. Memo | E. Pandelia | R. Lecce | A. Midro | Daniela Orteschi
[1] F. Faravelli,et al. Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes , 2007, American journal of medical genetics. Part A.
[2] M. Zollino,et al. The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case , 2005, American journal of medical genetics. Part A.
[3] J. Opitz,et al. A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome , 2004, European Journal of Human Genetics.
[4] P. Marynen,et al. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map , 2004, Journal of Medical Genetics.
[5] G. Neri,et al. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. , 2003, American journal of human genetics.
[6] Dagmar Wieczorek,et al. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. , 2002, American journal of human genetics.
[7] P. Stankiewicz,et al. Genome architecture, rearrangements and genomic disorders. , 2002, Trends in genetics : TIG.
[8] Stephen W. Scherer,et al. A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome , 2001, Nature Genetics.
[9] M. Volleth,et al. Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH , 2001, Journal of medical genetics.
[10] J. Weber,et al. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. , 2001, American journal of human genetics.
[11] D. Wieczorek,et al. Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS) , 2000, Journal of medical genetics.
[12] A. Battaglia,et al. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. , 2000, American journal of medical genetics.
[13] E. Zackai,et al. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. , 1997, Human molecular genetics.
[14] A. Nebel,et al. MICRODISSECTION AND DOP‐PCR‐BASED REVERSE CHROMOSOME PAINTING AS A FAST AND RELIABLE STRATEGY IN THE ANALYSIS OF VARIOUS STRUCTURAL CHROMOSOME ABNORMALITIES , 1996, Prenatal diagnosis.
[15] L. Shaffer,et al. Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome. , 1993, American journal of medical genetics.
[16] B. Dallapiccola,et al. Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. , 1993, American journal of medical genetics.
[17] R. Tupler,et al. Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. , 1992, Journal of medical genetics.
[18] R. Snell,et al. Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. , 1991, Journal of medical genetics.
[19] K. Hirschhorn,et al. Deletion of short arms of chromosome 4–5 in a child with defects of midline fusion , 2004, Humangenetik.
[20] U. Wolf,et al. Bericht über vier Trisomien 18 und ein Trisomie-18-Mosaik , 2004, Humangenetik.
[21] J. Fryns,et al. 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) , 1998, Genetic counseling.
[22] U. Wolf,et al. [Deficiency on the short arms of a chromosome No. 4]. , 1965, Humangenetik.