(Q42688004)

4 November 2017

title

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome (English)

1 reference

Deborah J Morris-Rosendahl

4 November 2017

main subject

Warburg micro syndrome

1 reference

Lina Basel-Vanagaite

0 references

Mark T Handley

0 references

Anna Jansen

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Maha S Zaki

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Ian J Jackson

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Eamonn R Maher

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object named as

Deborah J Morris-Rosendahl

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Lorenzo Pinelli

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Patrizia Accorsi

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Patrick Edery

1 reference

4 November 2017

Stephen Brown

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4 November 2017

Fiona Macdonald

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4 November 2017

Carol Hardy

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4 November 2017

Danai Bem

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4 November 2017

Sarah M Carpanini

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4 November 2017

Guntram Borck

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4 November 2017

Loreto Martorell

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4 November 2017

Claudia Izzi

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4 November 2017

Francesca Faravelli

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4 November 2017

Gabriela Peretz

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4 November 2017

Ghada M H Abdel-Salam

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4 November 2017

David Mowat

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4 November 2017

Ian Glass

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4 November 2017

Helen Stewart

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4 November 2017

Grazia Mancini

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4 November 2017

Damien Lederer

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4 November 2017

Tony Roscioli

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4 November 2017

Fabienne Giuliano

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4 November 2017

Astrid S Plomp

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4 November 2017

Arndt Rolfs

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4 November 2017

John M Graham

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4 November 2017

Eva Seemanova

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4 November 2017

Pilar Poo

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4 November 2017

Angels García-Cazorla

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4 November 2017

Irene A Aligianis

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4 November 2017

publication date

1 May 2013

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4 November 2017

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4 November 2017

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4 November 2017

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4 November 2017

page(s)

686-696

1 reference

Micro syndrome in Muslim Pakistan children

4 November 2017

cites work

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An integrated approach to uncover drivers of cancer.

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1 reference

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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

21 January 2018

1 reference

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Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

21 January 2018

1 reference

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Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus

21 January 2018

1 reference

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Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

21 January 2018

1 reference

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Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

21 January 2018

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Sense from nonsense: therapies for premature stop codon diseases.

21 January 2018

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A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

21 January 2018

1 reference

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Abnormal alpha-synuclein interactions with Rab proteins in alpha-synuclein A30P transgenic mice.

21 January 2018

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Rab18 and Rab43 have key roles in ER-Golgi trafficking

21 January 2018

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Mutant huntingtin impairs post-Golgi trafficking to lysosomes by delocalizing optineurin/Rab8 complex from the Golgi apparatus

21 January 2018

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Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome.

21 January 2018

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A novel RAB33B mutation in Smith-McCort dysplasia

21 January 2018

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Martsolf syndrome in Japanese siblings.

21 January 2018

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LOVD v.2.0: the next generation in gene variant databases

21 January 2018

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Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins

21 January 2018

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MICRO syndrome: an entity distinct from COFS syndrome.

21 January 2018

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Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance

21 January 2018

1 reference

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Role of Rab GTPases in membrane traffic and cell physiology

21 January 2018

1 reference

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RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

21 January 2018

1 reference

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Regulated localization of Rab18 to lipid droplets: effects of lipolytic stimulation and inhibition of lipid droplet catabolism

21 January 2018

1 reference

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Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

21 January 2018

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

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Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

21 January 2018

1 reference

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Rab3-GAP Controls the Progression of Synaptic Homeostasis at a Late Stage of Vesicle Release

21 January 2018

1 reference

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Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein

21 January 2018

1 reference

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Rab18 localizes to lipid droplets and induces their close apposition to the endoplasmic reticulum-derived membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

Rab18 dynamics in adipocytes in relation to lipogenesis, lipolysis and obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

Rab18 inhibits secretory activity in neuroendocrine cells by interacting with secretory granules

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

Warburg Micro syndrome in a Turkish boy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

21 January 2018

Warburg Micro syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

7 January 2021

Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

7 January 2021

Two brothers with Martsolf's syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

7 January 2021

Martsolf's syndrome in a non-Jewish boy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

7 January 2021

Rab18 is reduced in pituitary tumors causing acromegaly and its overexpression reverts growth hormone hypersecretion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22296

7 January 2021

Identifiers

DOI

10.1002/HUMU.22296

1 reference

4 November 2017

1 reference