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GPR30 estrogen receptor agonists induce mechanical hyperalgesia in the rat

The European journal of neuroscience, 2008-04, Vol.27 (7), p.1700-1709

2008

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The Opitz Syndrome Gene Product, MID1, Associates with Microtubules

Proceedings of the National Academy of Sciences - PNAS, 1999-03, Vol.96 (6), p.2794-2799

1999

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Elevated levels of Rad51 recombination protein in tumor cells

Cancer research (Chicago, Ill.), 2002, Vol.62 (1), p.219-225

2002

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Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Human mutation, 2019-12, Vol.40 (12), p.2270-2285

2019

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Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review

Clinical genetics, 2020-11, Vol.98 (5), p.507-514

2020

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Redefining the MED13L syndrome

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1308-1317

2015

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MID1 , mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

Nature genetics, 2001-11, Vol.29 (3), p.287-294

2001

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Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

Cell cycle (Georgetown, Tex.), 2014-05, Vol.13 (10), p.1650-1651

2014

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Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuli

Journal of neurochemistry, 2012-11, Vol.123 (4), p.589-601

2012

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ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation

Neurology. Genetics, 2017-06, Vol.3 (3), p.e148-e148

2017

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NYX (Nyctalopin on Chromosome X), the Gene Mutated in Congenital Stationary Night Blindness, Encodes a Cell Surface Protein

Investigative ophthalmology & visual science, 2003-10, Vol.44 (10), p.4184-4191

2003

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Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

American journal of medical genetics. Part A, 2005-01, Vol.132A (1), p.1-7

2005

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Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing

Human genetics, 2004-05, Vol.114 (6), p.541-552

2004

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Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

Human genetics, 2003-03, Vol.112 (3), p.249-254

2003

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Indication of a cellular context memory in pain signaling

GBM Annual Spring meeting Mosbach 2009, 2009-03, Vol.2009 (Spring), Article 2290

2009

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A rapid and inexpensive method for large-scale DNA sequencing of regions with large amounts of repetitive elements

Technical tips online, 1998, Vol.3 (1), p.32-34

1998

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Mild phenotypes in a series of patients with opitz gBBB syndrome with MID1 mutations

American journal of medical genetics, 2005, Vol.132A (1), p.1-7

2005

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Mild phenotypes in a series of patients with Opitz G Jr syndrome with MID1 mutations

American journal of medical genetics, 2005-01, Vol.132A (1), p.1-7

2005

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Effect of inbreeding on intellectual disability revisited by trio sequencing

GPR30 estrogen receptor agonists induce mechanical hyperalgesia in the rat

The Opitz Syndrome Gene Product, MID1, Associates with Microtubules

Elevated levels of Rad51 recombination protein in tumor cells

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review

Redefining the MED13L syndrome

MID1 , mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuli

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation

NYX (Nyctalopin on Chromosome X), the Gene Mutated in Congenital Stationary Night Blindness, Encodes a Cell Surface Protein

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

Indication of a cellular context memory in pain signaling

A rapid and inexpensive method for large-scale DNA sequencing of regions with large amounts of repetitive elements

Mild phenotypes in a series of patients with opitz gBBB syndrome with MID1 mutations

Mild phenotypes in a series of patients with Opitz G Jr syndrome with MID1 mutations

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