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

7

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Bernard Peissel

8

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Daniela Giachino

9

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Aldo Caporossi

12

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Alessandra Renieri

14

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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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Theodora Hadjistilianou

2

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Caterina Speciale

4

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Francesco Cetta

6

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Antonio Acquaviva

11

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Renato Frezzotti

13

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Mirella Bruttini

15

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publication date

4 February 2006

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Journal of Human Genetics

16 January 2020

published in

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volume

51

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issue

3

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page(s)

209-216

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

16 January 2020

exact match

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cites work

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

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12 December 2020

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

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12 December 2020

RB1 gene mutations in retinoblastoma

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Osteosarcoma following retinoblastoma: age at onset and latency period.

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Adenocarcinoma of the ethmoid following radiotherapy for bilateral retinoblastoma

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

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12 December 2020

Mutation and cancer: statistical study of retinoblastoma

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Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

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12 December 2020

Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene

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12 December 2020

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

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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

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12 December 2020

Outpatient clinic for genetic counseling and gene testing of retinoblastoma

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12 December 2020

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

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12 December 2020

Incidence of second neoplasms in patients with bilateral retinoblastoma

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12 December 2020

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

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12 December 2020

Inactivation of the retinoblastoma susceptibility gene in human breast cancers

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Rapid identification of germline mutations in retinoblastoma by protein truncation testing

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12 December 2020

Germline mutations in the RB1 gene in patients with hereditary retinoblastoma

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The spectrum of RB1 germ-line mutations in hereditary retinoblastoma

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12 December 2020

A general theory of carcinogenesis

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12 December 2020

Molecular basis of low-penetrance retinoblastoma

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12 December 2020

Retinoblastoma: revisiting the model prototype of inherited cancer

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12 December 2020

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

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12 December 2020

Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition

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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

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12 December 2020

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

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12 December 2020

Genetics of retinoblastoma

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12 December 2020

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

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12 December 2020

Mutation spectrum of the retinoblastoma gene in osteosarcomas

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12 December 2020

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

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12 December 2020

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

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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

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12 December 2020

10.1007/S10038-005-0348-3

Identifiers

DOI

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16 January 2020

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