(Q48728317)

15 February 2018

title

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases. (English)

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15 February 2018

genotype-phenotype correlation

main subject

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23

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15 February 2018

author name string

Jill A Rosenfeld

1

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15 February 2018

Dina Amrom

2

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15 February 2018

Eva Andermann

3

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15 February 2018

Frederick Andermann

4

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15 February 2018

Martin Veilleux

5

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15 February 2018

Cynthia Curry

6

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15 February 2018

Jamie Fisher

7

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15 February 2018

Stephen Deputy

8

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15 February 2018

Arthur S Aylsworth

9

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15 February 2018

Cynthia M Powell

10

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15 February 2018

Kandamurugu Manickam

11

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15 February 2018

Bryce Heese

12

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15 February 2018

Melissa Maisenbacher

13

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15 February 2018

Cathy Stevens

14

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15 February 2018

Jay W Ellison

15

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15 February 2018

Sheila Upton

16

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15 February 2018

John Moeschler

17

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15 February 2018

Wilfredo Torres-Martinez

18

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15 February 2018

Abby Stevens

19

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15 February 2018

Robert Marion

20

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15 February 2018

Elaine Maria Pereira

21

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15 February 2018

Melanie Babcock

22

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15 February 2018

Trilochan Sahoo

24

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15 February 2018

Allen N Lamb

25

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15 February 2018

Blake C Ballif

26

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15 February 2018

Alex R Paciorkowski

27

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15 February 2018

Lisa G Shaffer

28

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15 February 2018

publication date

5 January 2012

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15 February 2018

published in

Neurogenetics

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15 February 2018

volume

13

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15 February 2018

issue

1

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15 February 2018

page(s)

31-47

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15 February 2018

https://scigraph.springernature.com/pub.10.1007/s10048-011-0306-5

exact match

0 references

cites work

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24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism

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Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.

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Autistic features with speech delay in a girl with an approximately 1.5-Mb deletion in 6q16.1, including GPR63 and FUT9.

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Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients and review of the literature

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Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.

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De novo interstitial deletion q16.2q21 on chromosome 6.

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A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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MARCKS modulates radial progenitor placement, proliferation and organization in the developing cerebral cortex

21 January 2018

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New Aspects of Neurotransmitter Release and Exocytosis: Rho-Kinase-Dependent Myristoylated Alanine-Rich C-Kinase Substrate Phosphorylation and Regulation of Neurofilament Structure in Neuronal Cells

21 January 2018

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MARCKS regulates lamellipodia formation induced by IGF-I via association with PIP2 and beta-actin at membrane microdomains.

21 January 2018

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Myristoylated alanine rich C kinase substrate (MARCKS) heterozygous mutant mice exhibit deficits in hippocampal mossy fiber-CA3 long-term potentiation.

21 January 2018

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Different forms of MARCKS protein are involved in memory formation in the learning process of imprinting.

21 January 2018

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Effect of reduced myristoylated alanine-rich C kinase substrate expression on hippocampal mossy fiber development and spatial learning in mutant mice: transgenic rescue and interactions with gene background

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations

21 January 2018

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Sorting nexin 3, a protein upregulated by lithium, contains a novel phosphatidylinositol-binding sequence and mediates neurite outgrowth in N1E-115 cells

21 January 2018

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Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

Mammalian vestigial-like 2, a cofactor of TEF-1 and MEF2 transcription factors that promotes skeletal muscle differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

VITO-1, a novel vestigial related protein is predominantly expressed in the skeletal muscle lineage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

The neonatal ventromedial hypothalamus transcriptome reveals novel markers with spatially distinct patterning.

21 January 2018

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Restoration of circadian corticosterone rhythm in ventromedial hypothalamic lesioned rats

21 January 2018

1 reference

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Ventromedial hypothalamic neurons in the mediation of long-lasting effects of estrogen on lordosis behavior

21 January 2018

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Obesity and the hypothalamus: novel peptides for new pathways

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

The rise, fall, and resurrection of the ventromedial hypothalamus in the regulation of feeding behavior and body weight

21 January 2018

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Differential display of expressed genes reveals a novel function of SFRS18 in regulation of intramuscular fat deposition

21 January 2018

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Genes and gene expression modules associated with caloric restriction and aging in the laboratory mouse

21 January 2018

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A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

Isolation and functional expression of human COQ3, a gene encoding a methyltransferase required for ubiquinone biosynthesis

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

Sim2 contributes to neuroendocrine hormone gene expression in the anterior hypothalamus

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

Mice with MCH ablation resist diet-induced obesity through strain-specific mechanisms.

21 January 2018

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Melanin-concentrating hormone overexpression in transgenic mice leads to obesity and insulin resistance

21 January 2018

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Comparative proteomic analysis of proteins influenced by melanin-concentrating hormone and melanin-concentrating hormone receptor 2 interaction

21 January 2018

1 reference

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Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

The FOXO3a transcription factor regulates cardiac myocyte size downstream of AKT signaling

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

Overproduction of cardiac S-adenosylmethionine decarboxylase in transgenic mice.

21 January 2018

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Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

Interstitial deletion of the long arm of chromosome 6 associated with absent pulmonary valve

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

The biosynthesis of anticoagulant heparan sulfate by the heparan sulfate 3-O-sulfotransferase isoform 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0306-5

Interstitial 6q deletion and Prader-Willi-like phenotype

21 January 2018

1 reference

12 December 2020

Interstitial deletion of 6q without phenotypic effect

1 reference

12 December 2020

Prune-belly anomaly and large interstitial deletion of the long arm of chromosome 6

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12 December 2020

Tlx controls proliferation and patterning of lateral telencephalic progenitor domains.

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12 December 2020

Autopsy findings in interstitial deletion 6q

1 reference

12 December 2020

A de novo interstitial deletion of band q21 on chromosome 6

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12 December 2020

6q1 monosomy: a distinctive syndrome

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12 December 2020

Deletion of the long arm of chromosome 6: two new patients and literature review

1 reference

12 December 2020

Three cases with de novo 6q imbalance and variable prenatal phenotype

1 reference

12 December 2020

Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with phenotypic features of Williams syndrome

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12 December 2020

Interstitial deletion of the long arm of chromosome 6.

1 reference

12 December 2020

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

1 reference

12 December 2020

A de novo interstitial deletion of chromosome 6 (q22.2q23.1)

1 reference

12 December 2020

Interstitial deletion 6q16.2q22.2 in a child with ectrodactyly

1 reference

12 December 2020

Partial monosomy 6q(q15q21) by de novo interstitial deletion

1 reference

12 December 2020

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

1 reference

12 December 2020

Interstitial deletion of 6q21-q23 associated with split hand

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12 December 2020

Interstitial deletion of the long arm of chromosome 6 [del(6) (q16q22)]: case report and review of the literature.

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12 December 2020

Interstitial deletion 6q in a malformed boy

1 reference

12 December 2020

VITO-1, a novel vestigial related protein is predominantly expressed in the skeletal muscle lineage

1 reference

3 January 2024

https://opencitations.net/index/api/v1/citations/10.1016/S0925-4773(02)00386-6

Identifiers

DOI

10.1007/S10048-011-0306-5

1 reference

15 February 2018

1 reference

15 February 2018