Genetic Drivers of Kidney Defects in the DiGeorge Syndrome (scientific article)

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations

Q36551577

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.

Q36807618

Renal abnormalities and their developmental origin

Q36945522

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

Q37298164

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Q37310662

Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji).

Q41235958

The annual incidence of DiGeorge/velocardiofacial syndrome

Q41871255

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

Q42217484

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation

Q43136777

Clinical features of 78 adults with 22q11 Deletion Syndrome.

Q51925287

Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.

Q52200425

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

Q57200224

Genitourinary malformations in chromosome 22q11.2 deletion

Q78544382

Renal malformations in deletion 22q11.2 patients

Q83949118

Role of fibroblast growth factor receptor signaling in kidney development

Q84196885

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

Q87043717

Fetal phenotype associated with the 22q11 deletion

Q87544933

Central 22q11.2 deletions

Q87578693

P433

issue

P407

language of work or name

English

Q1860

P921

main subject

Apoptosis inducing factor, mitochondria associated 3

Q29830008

V-crk avian sarcoma virus CT10 oncogene homolog-like

Q29835928

P304

page(s)

742-754

P577

publication date

2017-01-25

P1433

published in

The New England Journal of Medicine

Q582728

P1476

title

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

P478

volume

376

Reverse relations

cites work (P2860)

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