Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure (Q77359214)

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5 December 2019

title

Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure (English)

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5 December 2019

author name string

M Rauchman

1

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5 December 2019

W H Hoffman

2

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5 December 2019

J D Hanna

3

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5 December 2019

A S Kulharya

4

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5 December 2019

R E Figueroa

5

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5 December 2019

J Yang

6

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5 December 2019

C M Tuck-Miller

7

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5 December 2019

publication date

1 November 2001

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American Journal of Medical Genetics Part A

5 December 2019

published in

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5 December 2019

volume

104

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5 December 2019

issue

1

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5 December 2019

page(s)

31-36

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Holoprosencephaly and endocrine dysgenesis in brothers

5 December 2019

cites work

1 reference

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Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities

21 January 2018

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Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

21 January 2018

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Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: Insights from molecular screening

21 January 2018

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Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

21 January 2018

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Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?

21 January 2018

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Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx4

21 January 2018

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A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities

21 January 2018

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Apparently new "anophthalmia-plus" syndrome in sibs

21 January 2018

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BMP4 is essential for lens induction in the mouse embryo

21 January 2018

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Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

21 January 2018

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Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies

21 January 2018

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[Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes].

21 January 2018

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Juvenile nephronophthisis with blindness in a three-month-old infant. Senior's syndrome associated with relative parathyroid insufficiency

21 January 2018

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A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping

21 January 2018

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The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome

21 January 2018

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Cebocephaly with endocrine dysgenesis. Report of 3 cases

21 January 2018

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A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

21 January 2018

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Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.

21 January 2018

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Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.

21 January 2018

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Visual acuity in children with coloboma: clinical features and a new phenotypic classification system

21 January 2018

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Congenital hypopituitarism and microphthalmia. Report of two cases

21 January 2018

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Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: a midline developmental field defect

21 January 2018

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Hereditary renal dysplasia and blindness

21 January 2018

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Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree

21 January 2018

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Cone-Shaped Epiphyses (CSE) in Siblings with Hereditary Renal Disease and Retinitis Pigmentosa

21 January 2018

1 reference

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A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

21 January 2018

1 reference

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Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

21 January 2018

1 reference

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Cleft Lip and Chorioideal Coloboma Associated with Multiple Hypothalamo-Pituitary Dysfunctions

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/AJMG.10016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746024%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

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