(Q24300041)

GOA release 2020-03-11

ureteric bud development

1 reference

GOA release 2020-03-11

vesicoureteral reflux

1 reference

17

0 references

Weining Lu

Weining Lu

1

0 references

Adrian S. Woolf

Adrian S Woolf

20

0 references

Damien Sanlaville

Damien Sanlaville

11

0 references

Xueping Fan

Xueping Fan

3

0 references

Jiong Yan

Jiong Yan

15

0 references

James F. Gusella

25

James F Gusella

0 references

James R. Lupski

22

James R Lupski

0 references

Fabiola Quintero-Rivera

4

Fabiola Quintero-Rivera

0 references

Qiongchao Xi

9

Qiongchao Xi

0 references

Yanli Fan

8

Yanli Fan

0 references

author name string

Albertien M van Eerde

2

0 references

Shashikant Kulkarni

5

0 references

Heather Ferguson

6

0 references

Hyung-Goo Kim

7

0 references

Qing-Gang Li

10

0 references

William Andrews

12

0 references

Vasi Sundaresan

13

0 references

Weimin Bi

14

0 references

Jacques C Giltay

16

0 references

Tom P V M de Jong

18

0 references

Sally A Feather

19

0 references

Yi Rao

21

0 references

Michael R Eccles

23

0 references

Bradley J Quade

24

0 references

Cynthia C Morton

26

0 references

Richard L Maas

American Journal of Human Genetics

27

0 references

language of work or name

English

0 references

publication date

April 2007

0 references

published in

0 references

volume

80

0 references

issue

4

0 references

page(s)

616-32

0 references

cites work

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

roundabout4 is essential for angiogenesis in vivo

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Extracellular Ig domains 1 and 2 of Robo are important for ligand (Slit) binding

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

SLIT2-mediated ROBO2 signaling restricts kidney induction to a single site

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Directional guidance of neuronal migration in the olfactory system by the protein Slit

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Conserved roles for Slit and Robo proteins in midline commissural axon guidance

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Vertebrate slit, a secreted ligand for the transmembrane protein roundabout, is a repellent for olfactory bulb axons

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Efficient in vivo manipulation of mouse genomic sequences at the zygote stage

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Structural basis of Robo proline-rich motif recognition by the srGAP1 Src homology 3 domain in the Slit-Robo signaling pathway

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Isolation and differential expression of two isoforms of the ROBO2/Robo2 axon guidance receptor gene in humans and mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Inadequate lung development and bronchial hyperplasia in mice with a targeted deletion in the Dutt1/Robo1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

astray, a zebrafish roundabout homolog required for retinal axon guidance

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Cre-mediated germline mosaicism: a method allowing rapid generation of several alleles of a target gene.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

What is the normal prevalence of vesicoureteral reflux?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

How they begin and how they end: classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Unravelling the genetics of vesicoureteric reflux: a common familial disorder

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

The relationship of vesico-ureteric reflux to urinary tract infection and chronic pyelonephritis-reflux nephropathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

The transmission of vesicoureteral reflux from parent to child

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Vesicoureteral reflux in asymptomatic siblings of patients with known reflux: radionuclide cystography

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Targeted disruption of the 3p12 gene, Dutt1/Robo1, predisposes mice to lung adenocarcinomas and lymphomas with methylation of the gene promoter.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Mutations in RAI1 associated with Smith-Magenis syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Smith-Magenis syndrome with bilateral vesicoureteral reflux: a case report

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Expression of green fluorescent protein in the ureteric bud of transgenic mice: a new tool for the analysis of ureteric bud morphogenesis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852714

Investigations of neuronal migration in the central nervous system

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357069

12 December 2020

Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357069

12 December 2020

Dynamic renal scintigraphy in children with vesicoureteral reflux and suspected coexisting ureteropelvic junction obstruction

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357069

12 December 2020

The intravesical ureter in primary reflux

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357069

12 December 2020

The ureteric orifice: The embryologic key to radiologic status of duplex kidneys

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357069

12 December 2020

Reflux nephropathy in the adult

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357069

12 December 2020

Vesicoureteric reflux: segregation analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357069

12 December 2020

Apoptosis induced by vitamin A signaling is crucial for connecting the ureters to the bladder

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357069

12 December 2020

Regarding the Smith-Magenis syndrome multidisciplinary clinical study by Greenberg et al [1996]

1 reference

5 October 2024

https://opencitations.net/index/api/v1/references/10.1086/512735

Identifiers

DOI

10.1086/512735

1 reference

release_pb3c7k4q4vd3nhfsucbk4osseu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pb3c7k4q4vd3nhfsucbk4osseu

24 November 2022

mapped directly with Wikidata item

1 reference

1 reference

PubMed publication ID

17357069

1 reference