Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome-Reference-Cited by-同舟云学术

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Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome

Published:2017-11-28 Issue:2 Volume:176 Page:391-398
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Palumbo Pietro¹,Accadia Maria¹²,Leone Maria P.¹³,Palladino Teresa¹,Stallone Raffaella¹,Carella Massimo¹^ORCID,Palumbo Orazio¹^ORCID

Affiliation:

1. Divisionof Medical GeneticsPoliambulatorio “Giovanni Paolo II,” IRCCSCasa Sollievo della Sofferenza, Viale Padre PioSan Giovanni Rotondo FGItaly

2. Medical Genetics ServiceHospital “Cardinale G. Panico,” Via San Pio X n°4TricaseItaly

3. Department of Soil, Plant, and Food ScienceUniversity of Bari “Aldo Moro,”BariItaly

Funder

Italian Ministry of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38559

Reference22 articles.

1. Celsr1 and Vangl2 team up to pattern the kidney

2. Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning

3. Changes in Ataxin-10 Expression after Sciatic Nerve Crush in Adult Rats

4. Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity

5. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

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3. Lymphedema is associated with CELSR1 in Phelan–McDermid syndrome;Clinical Genetics;2023-05-26

4. Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome;European Journal of Medical Genetics;2023-05

5. Multi-scale systems genomics analysis predicts pathways, cell types, and drug targets involved in normative variation in peri-adolescent human cognition;Cerebral Cortex;2023-04-27

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