(Q80738456)

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Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

scientific article published on 04 August 2007

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Europe PubMed Central

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3 January 2020

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 (English)

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3 January 2020

7

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3 January 2020

18

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3 January 2020

Salvatore Savasta

21

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3 January 2020

Giuseppe Marangi

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Giuseppe Marangi

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Livia Garavelli

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Livia Garavelli

17

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Domenica Battaglia

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Domenica Battaglia

11

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Marcella Zollino

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Marcella Zollino

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Rosetta Lecce

2

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Europe PubMed Central

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3 January 2020

Marina Murdolo

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3 January 2020

Daniela Orteschi

4

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3 January 2020

Angelo Selicorni

6

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3 January 2020

Giovanni Sorge

8

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3 January 2020

Giuseppe Zampino

9

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3 January 2020

Luigi Memo

10

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3 January 2020

Michael Petersen

12

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3 January 2020

Effie Pandelia

13

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3 January 2020

Yolanda Gyftodimou

14

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3 January 2020

Francesca Faravelli

15

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3 January 2020

Romano Tenconi

16

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3 January 2020

Rita Fischetto

19

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3 January 2020

Pietro Cavalli

20

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3 January 2020

Laura Rodriguez

22

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3 January 2020

Giovanni Neri

23

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3 January 2020

publication date

4 August 2007

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3 January 2020

1 reference

Europe PubMed Central

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3 January 2020

122

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3 January 2020

5

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3 January 2020

423-430

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3 January 2020

https://scigraph.springernature.com/pub.10.1007/s00439-007-0412-5

0 references

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of short arms of chromosome 4?5 in a child with defects of midline fusion

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome architecture, rearrangements and genomic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency on the short arms of a chromosome No. 4

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17676343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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