(Q56770910)

14

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Karen Gripp

8

object named as

Karen W Gripp

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author name string

Hannah M Tully

1

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Jennifer C Dempsey

2

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Gisele E Ishak

3

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Margaret P Adam

4

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Cynthia J R Curry

5

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Pedro Sanchez-Lara

6

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Alasdair Hunter

7

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Judith Allanson

9

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Christopher Cunniff

10

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Ian Glass

11

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Daniel Doherty

American Journal of Medical Genetics

13

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language of work or name

English

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publication date

October 2012

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published in

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volume

158A

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issue

10

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page(s)

2393-406

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cites work

A hairy paradox: congenital triangular alopecia with a central hair tuft

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Rhombencephalosynapsis associated with hand anomalies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Rhombencephalosynapsis diagnosed in childhood: clinical and MRI findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

VACTERL with hydrocephalus: a further case with probable autosomal recessive inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

VACTERL with hydrocephalus: further delineation of the syndrome(s)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Cerebellotrigeminal and focal dermal dysplasia: A newly recognized neurocutaneous syndrome

21 January 2018

2 references

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448816

Two new Brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights.

2 November 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

VATER and hydrocephalus: distinct syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Functional gene cassettes in development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Congenital triangular alopecia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Aventriculi associated with holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynaps

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases.

21 January 2018

2 references

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448816

Errors of morphogenesis and developmental field theory

2 November 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): description of three new cases and review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

21 January 2018

Defects of blastogenesis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Epidemiology of holoprosencephaly: Prevalence and risk factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Gomez-Lopez-Hernandez syndrome: another consideration in focal congenital alopecia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Fusion of the cerebellar hemispheres ventral to the brainstem: a rare hindbrain-related malformation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Molecular genetic classification of central nervous system malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Aventriculi associated with holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Telencephalosynapsis (synencephaly) and rhombencephalosynapsis with posterior fossa ventriculocele ('Dandy-Walker cyst'): an unusual aberrant syngenetic complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenetic considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Temporal triangular alopecia and a review of 52 past cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35561

Congenital triangular alopecia: a case report and review.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448816

Aprosencephaly: histopathological features of the rudimentary forebrain and retina

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448816

Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448816

Syntelencephaly in an infant of a diabetic mother.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448816

Aventriculy: a new entity?

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448816

Middle interhemispheric fusion: an unusual variant of holoprosencephaly

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448816

Clinical and histologic findings in temporal triangular alopecia.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448816

Association of VACTERL and hydrocephalus: a new familial entity

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448816

MR imaging of rhombencephalosynapsis: report of three cases and review of the literature

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448816

ZIC2 mutations are seen in holoprosencephaly and not partial rhombencephalosynapsis

2 November 2018

1 reference

12 December 2020

Defects of blastogenesis: counseling dilemmas in two families

1 reference

12 December 2020

Congenital triangular alopecia. Report of fourteen cases

1 reference

12 December 2020

Congenital triangular alopecia

1 reference

12 December 2020

VACTERL and hydrocephalus

1 reference

12 December 2020

Absence of excess chromosome breakage in a patient with VACTERL-hydrocephalus

1 reference

12 December 2020

Congenital triangular alopecia (Brauer nevus)

1 reference

12 December 2020

Congenital triangular alopecia

1 reference

12 December 2020

Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditions

1 reference

12 December 2020

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

1 reference

12 December 2020

Temporal triangular alopecia with decreased follicular density

1 reference

12 December 2020

X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations

1 reference

12 December 2020

Temporal triangular alopecia in association with mental retardation and epilepsy in a mother and daughter

1 reference

12 December 2020