(Q35781528)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

DELETION MAPPING OF CRITICAL REGION FOR HYPOSPADIAS, PENOSCROTAL TRANSPOSITION AND IMPERFORATE ANUS ON HUMAN CHROMOSOME 13 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

penoscrotal transposition

0 references

author

Andrew R. Zinn

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Linda A Baker

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

Nilda M Garcia

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Jocelyn Allgood

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Lane J Santos

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

D Lonergan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

J R Batanian

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Mark Henkemeyer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Oliver Bartsch

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Roger A Schultz

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

publication date

1 August 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

Journal of Pediatric Urology

30 December 2019

published in

1 reference

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30 December 2019

volume

2

1 reference

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30 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

page(s)

233-242

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development

30 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Environmental anti-androgens and male reproductive health: focus on phthalates and testicular dysgenesis syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Loss of Bmp7 and Fgf8 signaling in Hoxa13-mutant mice causes hypospadia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

The 'oestrogen hypothesis'- where do we stand now?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Hedgehog in the human: a possible explanation for the VATER association

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Embryonic development of mouse external genitalia: insights into a unique mode of organogenesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Pallister-Hall syndrome phenotype in mice mutant for Gli3

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Tail gut endoderm and gut/genitourinary/tail development: a new tissue-specific role for Hoxa13.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Unique functions of Sonic hedgehog signaling during external genitalia development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Anorectal malformations caused by defects in sonic hedgehog signaling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

The VACTERL association: lessons from the Sonic hedgehog pathway

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Hedgehog signals regulate multiple aspects of gastrointestinal development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Molecular analysis of external genitalia formation: the role of fibroblast growth factor (Fgf) genes during genital tubercle formation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

New mouse models of congenital anorectal malformations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

International trends in rates of hypospadias and cryptorchidism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Molecular distinction and angiogenic interaction between embryonic arteries and veins revealed by ephrin-B2 and its receptor Eph-B4

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

The genetics of anorectal malformations: a complex matter

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Hypospadias trends in two US surveillance systems

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

The 13q-deletion syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

An epidemiological study of congenital anorectal malformations: 15 Danish birth cohorts followed for 7 years.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

VATER and hydrocephalus: distinct syndrome?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Imperforate Anus: a five to thirty year follow-up perspective

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Sonic hedgehog signaling from the urethral epithelium controls external genital development.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

External genitalia formation: role of fibroblast growth factor, retinoic acid signaling, and distal urethral epithelium

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

A case of del(13)(q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: definition of a new clinical syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q).

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1864933

Ring chromosome 13 in an infant with multiple congenital anomalies and penoscrotal transposition

25 September 2018

1 reference

12 December 2020

Deletion (13)(q22) with multiple congenital anomalies, hydranencephaly and penoscrotal transposition

1 reference

12 December 2020

Imperforate anus in 700,000 consecutive liveborn infants

1 reference

12 December 2020

Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34.

1 reference

12 December 2020

New chromosomal syndromes. III. The 13q deletion syndrome

1 reference

12 December 2020

Prenatal diagnosis of 13q- syndrome in a fetus with holoprosencephaly and thumb agenesis

1 reference

12 December 2020

Genital malformations and coexistent urinary tract or spinal anomalies in patients with imperforate anus

1 reference

12 December 2020

[Lethal polymalformative syndrome with 13q deletion secondary to a maternal X; 13 translocation]

1 reference

12 December 2020

10.1016/J.JPUROL.2006.03.006

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476316%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

PubMed publication ID

17476316

1 reference