First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency (Q56241314)

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4 November 2019

title

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency (English)

1 reference

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4 November 2019

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Nelly Frydman

6

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Arnold Munnich

9

object named as

Arnold Munnich

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Pierre F Ray

1

1 reference

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4 November 2019

Jean-Paul Bonnefont

3

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4 November 2019

author name string

Pierre F. Ray

1

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Nadine Gigarel

2

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Jean Paul Bonnefont

3

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Tania Atti�

4

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Samir Hamamah

5

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Michel Vekemans

7

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Ren� Frydman

8

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Nelly Frydman

6

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N Gigarel

2

1 reference

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4 November 2019

T Attié

4

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4 November 2019

S Hamamah

5

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4 November 2019

N Frydman

6

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4 November 2019

M Vekemans

7

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4 November 2019

R Frydman

8

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4 November 2019

A Munnich

9

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4 November 2019

publication date

December 2000

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1 December 2000

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4 November 2019

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4 November 2019

volume

20

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4 November 2019

issue

13

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4 November 2019

page(s)

1048-1054

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Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

4 November 2019

cites work

1 reference

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Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers

21 January 2018

1 reference

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Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis*

21 January 2018

1 reference

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Successful outcome with day 4 embryo transfer after preimplantation diagnosis for genetically transmitted diseases

21 January 2018

1 reference

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Biopsy of human preimplantation embryos and sexing by DNA amplification.

21 January 2018

1 reference

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Recent advances and future developments in PGD.

21 January 2018

1 reference

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Birth after preimplantation diagnosis of the cystic fibrosis delta F508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm.

21 January 2018

1 reference

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Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion

21 January 2018

1 reference

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Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

21 January 2018

1 reference

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Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200012%2920%3A13%3C1048%3A%3AAID-PD975%3E3.0.CO%3B2-8

Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis in clinical practice

21 January 2018

1 reference

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Successful preimplantation genetic diagnosis for sex Link Lesch--Nyhan Syndrome using specific diagnosis

21 January 2018

1 reference

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Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes

21 January 2018

1 reference

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Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200012%2920%3A13%3C1048%3A%3AAID-PD975%3E3.0.CO%3B2-8

X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200012%2920%3A13%3C1048%3A%3AAID-PD975%3E3.0.CO%3B2-8

10.1002/1097-0223(200012)20:13<1048::AID-PD975>3.0.CO;2-8

21 January 2018

Identifiers

DOI

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4 November 2019

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