(Q41425444)

30 September 2017

title

Omphalocele in Miller-Dieker syndrome: expanding the phenotype (English)

1 reference

Miller–Dieker lissencephaly syndrome

30 September 2017

main subject

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author name string

Chitayat D

1

1 reference

30 September 2017

Toi A

2

1 reference

30 September 2017

Babul R

3

1 reference

30 September 2017

Blaser S

4

1 reference

30 September 2017

Moola S

5

1 reference

30 September 2017

Yarkoni D

6

1 reference

30 September 2017

Sermer M

7

1 reference

30 September 2017

Johnson JA

8

1 reference

30 September 2017

Vasjar J

9

1 reference

30 September 2017

Teshima I

10

1 reference

30 September 2017

publication date

1 March 1997

1 reference

American Journal of Medical Genetics Part A

30 September 2017

published in

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30 September 2017

volume

69

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30 September 2017

issue

3

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30 September 2017

page(s)

293-298

1 reference

Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring

30 September 2017

cites work

1 reference

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C syndrome and omphalocele: another example

21 January 2018

1 reference

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Familial congenital diaphragmatic defect and associated midline anomalies: further evidence for an X-linked midline gene?

21 January 2018

1 reference

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Prenatal diagnosis of retinal nonattachment in the Walker‐Warburg syndrome

21 January 2018

1 reference

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Miller-Dieker syndrome: lissencephaly and monosomy 17p.

21 January 2018

1 reference

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Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly

21 January 2018

1 reference

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Causal heterogeneity in isolated lissencephaly

21 January 2018

1 reference

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Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

21 January 2018

1 reference

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Apparent Malpuech syndrome: report on three Brazilian patients with additional signs

21 January 2018

1 reference

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Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

21 January 2018

1 reference

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Familial occurrence of omphalocele suggesting sex-linked inheritance

21 January 2018

1 reference

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Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome.

21 January 2018

1 reference

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Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: a new autosomal recessive syndrome.

21 January 2018

1 reference

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Craniosynostosis, agenesis of the corpus callosum, serve mental retardation, distinctive facies, camptodactyly, and hypogonadism

21 January 2018

1 reference

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LISSENCEPHALY IN 2 SIBLINGS.

21 January 2018

1 reference

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Prenatal diagnosis of lissencephaly by magnetic resonance image.

21 January 2018

1 reference

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Syndromes with lissencephaly

21 January 2018

1 reference

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Two consecutive hydrolethalus syndrome-affected pregnancies in a nonconsanguinous black couple: discussion of problems in prenatal differential diagnosis of midline malformation syndromes

21 January 2018

1 reference

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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 January 2018

1 reference

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Prenatal diagnosis of lissencephaly

21 January 2018

1 reference

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The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970331%2969%3A3%3C293%3A%3AAID-AJMG15%3E3.0.CO%3B2-M

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970331%2969%3A3%3C293%3A%3AAID-AJMG15%3E3.0.CO%3B2-M

Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970331%2969%3A3%3C293%3A%3AAID-AJMG15%3E3.0.CO%3B2-M

10.1002/(SICI)1096-8628(19970331)69:3<293::AID-AJMG15>3.0.CO;2-M

21 January 2018

Identifiers

DOI

1 reference

30 September 2017

1 reference