Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group (Q40864285)

24 September 2017

Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group (English)

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24 September 2017

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McDaniel LD

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24 September 2017

Prueitt R

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24 September 2017

Probst LC

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24 September 2017

Wilson KS

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24 September 2017

Tomkins D

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24 September 2017

Wilson GN

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24 September 2017

Schultz RA

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24 September 2017

1 July 2000

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American Journal of Medical Genetics Part A

24 September 2017

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24 September 2017

93

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24 September 2017

223-229

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24 September 2017

3

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Somatic cell hybridization of roberts syndrome and normal lymphoblasts resulting in correction of both the cytogenetic and mutagen hypersensitivity cellular phenotypes

24 September 2017

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Heterogeneity in Roberts syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Factors involved in differential Giemsa-staining of sister chromatids

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Somatic cell hybridization of Roberts syndrome and normal human fibroblasts transfected with plasmids carrying dominant selection markers.

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Clinical heterogeneity of skeletal dysplasia in Roberts syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Cloning of cDNAs for Fanconi's anaemia by functional complementation

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Cytogenetic findings in Roberts-SC phocomelia syndrome(s)

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Roberts syndrome: a review of 100 cases and a new rating system for severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Sensitivity of Roberts syndrome cells to gamma radiation, mitomycin C, and protein synthesis inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

High Resolution of Human Chromosomes

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Studies of mitotic and centromeric abnormalities in Roberts syndrome: Implications for a defect in the mitotic mechanism

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Roberts syndrome with normal cell division

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Premature centromere splitting in a presumptive mild form of Roberts syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Prenatal diagnosis of Roberts syndrome: two new cases

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Roberts syndrome or "X-linked amelia"?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Variations in IQ of two patients with pseudothalidomide syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Roberts syndrome: first-trimester prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

SALVAGE OF THE HAND BY TIMELY REPARATIVE SURGERY

21 January 2018

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https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Roberts syndrome and SC phocomelia. A single genetic entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

A rapid banding technique for human chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C223%3A%3AAID-AJMG13%3E3.0.CO%3B2-J

10.1002/1096-8628(20000731)93:3<223::AID-AJMG13>3.0.CO;2-J

21 January 2018

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24 September 2017

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