(Q40273248)

19 September 2017

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans (English)

1 reference

19 September 2017

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1 reference

15

Fowzan S Alkuraya

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19 September 2017

9

A Micheil Innes

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19 September 2017

Jillian S Parboosingh

10

object named as

Jillian S Parboosingh

1 reference

19 September 2017

14

Francois P Bernier

1 reference

19 September 2017

Hanan Shamseldin

1

1 reference

19 September 2017

Anas M Alazami

2

1 reference

19 September 2017

Melanie Manning

3

1 reference

19 September 2017

Amal Hashem

4

1 reference

19 September 2017

Oana Caluseiu

5

1 reference

19 September 2017

Brahim Tabarki

6

1 reference

19 September 2017

Edward Esplin

7

1 reference

19 September 2017

Susan Schelley

8

1 reference

19 September 2017

Ryan Lamont

11

1 reference

19 September 2017

Care4Rare Canada Consortium

12

1 reference

19 September 2017

Jacek Majewski

13

1 reference

19 September 2017

language of work or name

English

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publication date

18 November 2015

1 reference

American Journal of Human Genetics

19 September 2017

1 reference

19 September 2017

97

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19 September 2017

6

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19 September 2017

862-868

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Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

19 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Molecular genetics of human primary microcephaly: an overview.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Katanin p80 regulates human cortical development by limiting centriole and cilia number

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Primordial dwarfism: an update

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Genetic causes of microcephaly and lessons for neuronal development

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

RTTN mutations link primary cilia function to organization of the human cerebral cortex

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Mechanisms and pathways of growth failure in primordial dwarfism.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Neurogenesis at the brain-cerebrospinal fluid interface

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Centrosomes and cilia in human disease.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

What disorders of cortical development tell us about the cortex: one plus one does not always make two

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Novel CENPJ mutation causes Seckel syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Ana3 is a conserved protein required for the structural integrity of centrioles and basal bodies

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Identification of microcephalin, a protein implicated in determining the size of the human brain

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Rotatin is a novel gene required for axial rotation and left-right specification in mouse embryos

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Nt mutation causing laterality defects associated with deletion of rotatin.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678428

Mechanism of nodal flow: a conserved symmetry breaking event in left-right axis determination

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26608784

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.10.012

1 reference

19 September 2017

1 reference

19 September 2017

PubMed publication ID

26608784

1 reference