(Q44309455)

1 December 2017

title

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria (English)

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1 December 2017

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7

Tania Attié-Bitach

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Nadia Bahi-Buisson

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Nadia Bahi-Buisson

12

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Karine Poirier

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Karine Poirier

2

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Alexandra Benachi

8

object named as

Alexandra Benachi

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1 December 2017

Stéphanie Valence

1

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1 December 2017

Nicolas Lebrun

3

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1 December 2017

Yoann Saillour

4

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1 December 2017

Pascale Sonigo

5

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1 December 2017

Bettina Bessières

6

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1 December 2017

Cécile Masson

9

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1 December 2017

Ferechté Encha-Razavi

10

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1 December 2017

Jamel Chelly

11

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1 December 2017

publication date

27 September 2013

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1 December 2017

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1 December 2017

volume

14

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1 December 2017

issue

3-4

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1 December 2017

page(s)

215-224

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Pathogenesis of four-layered microgyric cortex in man.

1 December 2017

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Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

21 January 2018

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Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis

21 January 2018

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SRPX2 mutations in disorders of language cortex and cognition

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Truncation of NHEJ1 in a patient with polymicrogyria

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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

21 January 2018

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RTTN mutations link primary cilia function to organization of the human cerebral cortex

21 January 2018

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Recessive LAMC3 mutations cause malformations of occipital cortical development

21 January 2018

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Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

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Two brothers with Goldberg-Shprintzen syndrome.

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Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.

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Current significance of meconium plug syndrome

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Hirschsprung disease, associated syndromes and genetics: a review

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The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

21 January 2018

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The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein

21 January 2018

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KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.

21 January 2018

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Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice.

21 January 2018

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KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome

21 January 2018

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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

21 January 2018

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Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

21 January 2018

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Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration

21 January 2018

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12 December 2020

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome

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12 December 2020

THE MECONIUM-PLUG SYNDROME AND HIRSCHSPRUNG'S DISEASE

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12 December 2020

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

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12 December 2020

Molecular motors in neurons: transport mechanisms and roles in brain function, development, and disease.

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12 December 2020

Hirschsprung megacolon and cleft palate in two sibs

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12 December 2020

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

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12 December 2020

A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).

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12 December 2020

10.1007/S10048-013-0373-X

Identifiers

DOI

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1 December 2017

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