(Q61974522)

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16 January 2020

title

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations (English)

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16 January 2020

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3

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16 January 2020

Siranoush Manoukian

7

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16 January 2020

Bernard Peissel

8

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16 January 2020

Daniela Giachino

9

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16 January 2020

Aldo Caporossi

12

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16 January 2020

Alessandra Renieri

14

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16 January 2020

10

Barbara Pasini

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Maria Antonietta Mencarelli

16 January 2020

5

object named as

Maria Antonietta Mencarelli

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16 January 2020

author name string

Katia Sampieri

1

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16 January 2020

Theodora Hadjistilianou

2

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16 January 2020

Caterina Speciale

4

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16 January 2020

Francesco Cetta

6

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16 January 2020

Antonio Acquaviva

11

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16 January 2020

Renato Frezzotti

13

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16 January 2020

Mirella Bruttini

15

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16 January 2020

publication date

4 February 2006

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Journal of Human Genetics

16 January 2020

published in

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16 January 2020

volume

51

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16 January 2020

issue

3

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16 January 2020

page(s)

209-216

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https://scigraph.springernature.com/pub.10.1007/s10038-005-0348-3

16 January 2020

exact match

0 references

cites work

Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function

1 reference

12 December 2020

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma

1 reference

12 December 2020

RB1 gene mutations in retinoblastoma

1 reference

12 December 2020

Osteosarcoma following retinoblastoma: age at onset and latency period.

1 reference

12 December 2020

Adenocarcinoma of the ethmoid following radiotherapy for bilateral retinoblastoma

1 reference

12 December 2020

Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing

1 reference

12 December 2020

Mutation and cancer: statistical study of retinoblastoma

1 reference

12 December 2020

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

1 reference

12 December 2020

Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene

1 reference

12 December 2020

Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients

1 reference

12 December 2020

Cancer incidence after retinoblastoma. Radiation dose and sarcoma risk

1 reference

12 December 2020

Detection of allelic imbalance in the gene expression of hMSH2 or RB1 in lymphocytes from pedigrees of hereditary, nonpolyposis, colorectal cancer and retinoblastoma by an RNA difference plot

1 reference

12 December 2020

Outpatient clinic for genetic counseling and gene testing of retinoblastoma

1 reference

12 December 2020

Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.

1 reference

12 December 2020

Incidence of second neoplasms in patients with bilateral retinoblastoma

1 reference

12 December 2020

Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense

1 reference

12 December 2020

Inactivation of the retinoblastoma susceptibility gene in human breast cancers

1 reference

12 December 2020

Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation?

1 reference

12 December 2020

Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma

1 reference

12 December 2020

Second primary tumors in hereditary retinoblastoma: a register-based study, 1945-1997: is there an age effect on radiation-related risk?

1 reference

12 December 2020

Rapid identification of germline mutations in retinoblastoma by protein truncation testing

1 reference

12 December 2020

Germline mutations in the RB1 gene in patients with hereditary retinoblastoma

1 reference

12 December 2020

Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis

1 reference

12 December 2020

RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma

1 reference

12 December 2020

The spectrum of RB1 germ-line mutations in hereditary retinoblastoma

1 reference

12 December 2020

A general theory of carcinogenesis

1 reference

12 December 2020

Molecular basis of low-penetrance retinoblastoma

1 reference

12 December 2020

Retinoblastoma: revisiting the model prototype of inherited cancer

1 reference

12 December 2020

Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations

1 reference

12 December 2020

Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition

1 reference

12 December 2020

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype

1 reference

12 December 2020

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma

1 reference

12 December 2020

Genetics of retinoblastoma

1 reference

12 December 2020

For whom the bell tolls: susceptibility to common adult cancers in retinoblastoma survivors

1 reference

12 December 2020

Mutation spectrum of the retinoblastoma gene in osteosarcomas

1 reference

12 December 2020

A possible hot spot in exon 21 of the retinoblastoma gene predisposing to a low penetrant retinoblastoma phenotype?

1 reference

12 December 2020

Detection of germline mutations in argentine retinoblastoma patients: low and full penetrance retinoblastoma caused by the same germline truncating mutation

1 reference

12 December 2020

Developmental basis of retinal-specific induction of cancer by RB mutation.

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12 December 2020

Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma.

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12 December 2020

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

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12 December 2020

Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma

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12 December 2020

Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma

1 reference

12 December 2020

10.1007/S10038-005-0348-3

Identifiers

DOI

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16 January 2020

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