Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype. (Q52658035)

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2 March 2020

title

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype (English)

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2 March 2020

1

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2 March 2020

Ola M. Eid

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2 March 2020

author name string

Mohamed S Abdel-Hamid

2

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2 March 2020

Hamed A El-Khayat

3

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2 March 2020

Soliman Saba

5

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2 March 2020

Mona K Farag

6

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Sahar N Saleem

7

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Khaled R Gaber

8

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language of work or name

English

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publication date

10 March 2015

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American Journal of Medical Genetics

2 March 2020

published in

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volume

167A

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issue

5

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page(s)

1089-1099

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Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

2 March 2020

cites work

1 reference

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Fetal brain disruption sequence in sisters

21 January 2018

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Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

21 January 2018

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The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

21 January 2018

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Prenatal cocaine exposure and the expanding spectrum of brain malformations

21 January 2018

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Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37010

Fetal brain disruption sequence: a milder variant

21 January 2018

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Report and review of the fetal brain disruption sequence

21 January 2018

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Pathological case of the month. Fetal brain disruption sequence.

21 January 2018

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Genetic malformations of cortical development

21 January 2018

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Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly

21 January 2018

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Elements of morphology: general terms for congenital anomalies.

21 January 2018

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A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

21 January 2018

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Fetal brain disruption sequence

21 January 2018

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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

21 January 2018

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Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

21 January 2018

1 reference

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Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly

21 January 2018

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In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence

21 January 2018

1 reference

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Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships.

21 January 2018

1 reference

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Fetal brain disruption sequence in a newborn infant with a history of cordocentesis at 21 weeks gestation

21 January 2018

1 reference

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Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome

21 January 2018

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A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37010

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2 March 2020

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