(Q34478016)

2 August 2017

0 references

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome (English)

1 reference

Gabriele Gillessen-Kaesbach

2 August 2017

1 reference

1 reference

9

Gudrun Nürnberg

0 references

23

Gabriele Gillessen-Kaesbach

0 references

Gökhan Yigit

11

Gökhan Yigit

0 references

Peter Nürnberg

27

Peter Nürnberg

1 reference

2 August 2017

William G Newman

26

0 references

Bernd Wollnik

24

Bernd Wollnik

1 reference

2 August 2017

22

Robert Smigiel

1 reference

2 August 2017

16

Jill E Urquhart

1 reference

2 August 2017

7

Janine Altmüller

1 reference

2 August 2017

8

Holger Thiele

1 reference

ORCID Public Data File 2021

2 August 2017

1 reference

Shahida Moosa

Shahida Moosa

10

0 references

Muhammad Sajid Hussain

Muhammad Sajid Hussain

1

0 references

Shin-ichi Sakakibara

Shin-ichi Sakakibara

6

0 references

Agatino Battaglia

Agatino Battaglia

2

0 references

Francesco Brancati

Francesco Brancati

20

0 references

Filippo Beleggia

Filippo Beleggia

12

0 references

author name string

Sandra Szczepanski

3

1 reference

2 August 2017

Emrah Kaygusuz

4

1 reference

2 August 2017

Mohammad Reza Toliat

5

1 reference

2 August 2017

Sigrid Tinschert

13

1 reference

2 August 2017

Jill Clayton-Smith

14

1 reference

2 August 2017

Pradeep Vasudevan

15

1 reference

2 August 2017

Dian Donnai

17

1 reference

2 August 2017

Alan Fryer

18

1 reference

2 August 2017

Ferda Percin

19

1 reference

2 August 2017

Angus Dobbie

21

1 reference

2 August 2017

Angelika Anna Noegel

25

1 reference

2 August 2017

language of work or name

English

0 references

publication date

6 November 2014

1 reference

American Journal of Human Genetics

2 August 2017

1 reference

2 August 2017

95

1 reference

2 August 2017

5

1 reference

2 August 2017

622-632

1 reference

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Radmis, a novel mitotic spindle protein that functions in cell division of neural progenitors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Multiple dental and skeletal abnormalities in an individual with filippi syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

The epidemiology, genetics and future management of syndactyly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

WDR62 is associated with the spindle pole and is mutated in human microcephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

In vivo identification of sumoylation sites by a signature tag and cysteine-targeted affinity purification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Distinct and dynamic myogenic populations in the vertebrate embryo.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Filippi syndrome: two cases with ectodermal features, expanding the phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

ASPM is a major determinant of cerebral cortical size

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Allegro, a new computer program for multipoint linkage analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

The KEN box: an APC recognition signal distinct from the D box targeted by Cdh1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Filippi syndrome: report of three additional cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Filippi syndrome with mild learning difficulties.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Rat monoclonal antitubulin antibodies derived by using a new nonsecreting rat cell line

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Expanding the phenotype of Filippi syndrome: a report of three cases.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: a case report

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Filippi syndrome: further clinical characterization

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225581

Pax-3 is required for the development of limb muscles: a possible role for the migration of dermomyotomal muscle progenitor cells

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25439729

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Handling, storage, and preparation of human blood cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25439729

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.10.008

1 reference

2 August 2017

1 reference

2 August 2017

1 reference