(Q34157672)

31 July 2017

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome (English)

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21

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Karen M Lower

1

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Markus Grompe

object named as

Markus Grompe

17

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Katherine Mathews

object named as

Katherine D Mathews

4

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Martin Delatycki

10

object named as

Martin B Delatycki

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31 July 2017

15

Bert B A de Vries

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31 July 2017

Gillian Turner

2

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31 July 2017

Bronwyn A Kerr

3

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31 July 2017

Marie A Shaw

5

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Agi K Gedeon

6

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31 July 2017

Susan Schelley

7

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31 July 2017

H Eugene Hoyme

8

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31 July 2017

Susan M White

9

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31 July 2017

Anne K Lampe

11

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31 July 2017

Jill Clayton-Smith

12

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31 July 2017

Helen Stewart

13

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Conny M A van Ravenswaay

14

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Barbara Cox

16

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Shelley Ross

18

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Paul Thomas

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John C Mulley

20

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31 July 2017

language of work or name

English

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publication date

4 November 2002

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31 July 2017

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32

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661-665

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4

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https://scigraph.springernature.com/pub.10.1038/ng1040

31 July 2017

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cites work

Linkage localization of Börjeson-Forssman-Lehmann syndrome.

1 reference

Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

21 January 2018

1 reference

Characterization of three overlapping deletions causing X-linked lymphoproliferative disease

21 January 2018

1 reference

Monogenic causes of X-linked mental retardation.

21 January 2018

1 reference

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

21 January 2018

1 reference

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

21 January 2018

1 reference

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 January 2018

1 reference

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

1 reference

New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death

21 January 2018

1 reference

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

21 January 2018

1 reference

Functional architecture in the cell nucleus

21 January 2018

1 reference

The nucleolus and the four ribonucleoproteins of translation

21 January 2018

1 reference

21 January 2018

1 reference

The ins and outs of HIV Rev.

21 January 2018

1 reference

The leukemia-associated-protein (LAP) domain, a cysteine-rich motif, is present in a wide range of proteins, including MLL, AF10, and MLLT6 proteins

21 January 2018

1 reference

A family of chromatin remodeling factors related to Williams syndrome transcription factor

21 January 2018

1 reference

Three yeast proteins related to the human candidate tumor suppressor p33(ING1) are associated with histone acetyltransferase activities.

21 January 2018

1 reference

Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda

21 January 2018

1 reference

Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann Syndrome

21 January 2018

1 reference

7 January 2021

Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation

1 reference

7 January 2021

Splitting and lumping in the nosology of XLMR.

1 reference

7 January 2021

The PHD finger: implications for chromatin-mediated transcriptional regulation

1 reference

7 January 2021

Identification of two novel zinc finger modules and nuclear localization signal in rat spermatidal protein TP2 by site-directed mutagenesis

1 reference

7 January 2021

Nucleoporins nup98 and nup214 participate in nuclear export of human immunodeficiency virus type 1 Rev

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1040

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31 July 2017

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