(Q34320437)

1 August 2017

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity (English)

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1 August 2017

10

Barbara De Moerloose

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Luigi D Notarangelo

12

object named as

Luigi D Notarangelo

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1 August 2017

Alessandra Pangrazio

1

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1 August 2017

Anders Fasth

2

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1 August 2017

Andrea Sbardellati

3

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1 August 2017

Paul J Orchard

4

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1 August 2017

Kimberly A Kasow

5

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1 August 2017

Jamal Raza

6

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1 August 2017

Canan Albayrak

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1 August 2017

Davut Albayrak

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1 August 2017

Olivier M Vanakker

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1 August 2017

Ashok Vellodi

11

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1 August 2017

Claire Schlack

13

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1 August 2017

Gabriele Strauss

14

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1 August 2017

Jörn-Sven Kühl

15

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1 August 2017

Elena Caldana

16

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1 August 2017

Nadia Lo Iacono

17

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1 August 2017

Lucia Susani

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1 August 2017

Uwe Kornak

19

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1 August 2017

Ansgar Schulz

20

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1 August 2017

Paolo Vezzoni

21

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1 August 2017

Anna Villa

22

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1 August 2017

Cristina Sobacchi

23

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1 August 2017

1 May 2013

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Journal of Bone and Mineral Research

1 August 2017

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1 August 2017

28

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1 August 2017

5

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1 August 2017

1041-1049

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The mutational spectrum of human malignant autosomal recessive osteopetrosis

1 August 2017

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Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.

21 January 2018

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An SNX10 mutation causes malignant osteopetrosis of infancy

21 January 2018

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Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

21 January 2018

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Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

21 January 2018

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Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement

21 January 2018

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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

21 January 2018

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Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

21 January 2018

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Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

21 January 2018

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Crystal structure of the yeast Phox homology (PX) domain protein Grd19p complexed to phosphatidylinositol-3-phosphate

21 January 2018

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Insights into the PX (phox-homology) domain and SNX (sorting nexin) protein families: structures, functions and roles in disease

21 January 2018

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Sorting nexin 10 induces giant vacuoles in mammalian cells

21 January 2018

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A single-center experience in 20 patients with infantile malignant osteopetrosis

21 January 2018

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Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor

21 January 2018

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Sorting out the cellular functions of sorting nexins

21 January 2018

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The genetic structure of the Swedish population

21 January 2018

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A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo

21 January 2018

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Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model

21 January 2018

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Osteopetrosis-More than only a disease of the bone

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/JBMR.1849

1 reference

1 August 2017

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