(Q73180962)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10560999%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Mutation analysis of the EMX2 gene in Kallmann's syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10560999%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

H S Taylor

1

1 reference

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2 November 2019

K Block

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10560999%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

D P Bick

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10560999%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

R J Sherins

4

1 reference

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2 November 2019

L C Layman

5

1 reference

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2 November 2019

language of work or name

English

0 references

publication date

1 November 1999

1 reference

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2 November 2019

published in

Fertility and Sterility

1 reference

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2 November 2019

volume

72

1 reference

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2 November 2019

issue

5

1 reference

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2 November 2019

page(s)

910-914

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10560999%20AND%20SRC:MED&resulttype=core&format=json

Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases

2 November 2019

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Sex and smell – an enigma resolved

7 January 2021

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Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode

7 January 2021

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Origin of luteinizing hormone-releasing hormone neurons

7 January 2021

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Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome

7 January 2021

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X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome

7 January 2021

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Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

7 January 2021

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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

7 January 2021

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The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

7 January 2021

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X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene

7 January 2021

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Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance.

7 January 2021

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Familial monotropic pituitary gonadotropin insufficiency

7 January 2021

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The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review

7 January 2021

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A homologous protein-coding sequence in Drosophila homeotic genes and its conservation in other metazoans.

7 January 2021

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A conserved DNA sequence in homoeotic genes of the Drosophila Antennapedia and bithorax complexes

7 January 2021

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Homeobox genes and axial patterning

7 January 2021

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Hox genes in vertebrate development

7 January 2021

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Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

7 January 2021

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An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

7 January 2021

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A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

7 January 2021

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The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

7 January 2021

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A human MSX1 homeodomain missense mutation causes selective tooth agenesis

7 January 2021

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CDX2, a human homologue of Drosophila caudal, is mutated in both alleles in a replication error positive colorectal cancer

7 January 2021

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

7 January 2021

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Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome

7 January 2021

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A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency

7 January 2021

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Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans

7 January 2021

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Expression and embryonic function of empty spiracles: a Drosophila homeo box gene with two patterning functions on the anterior-posterior axis of the embryo.

7 January 2021

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Nested expression domains of four homeobox genes in developing rostral brain

7 January 2021

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Bone loss in Kallmann syndrome

7 January 2021

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

7 January 2021

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

7 January 2021

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Protocols for an improved detection of point mutations by SSCP

7 January 2021

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High percentage acrylamide gels improve resolution in SSCP analysis

7 January 2021

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Optimization of PCR and electrophoresis conditions enhances mutation analysis of the BRCA1 gene

7 January 2021

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Mutation of HOXA13 in hand-foot-genital syndrome

7 January 2021

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Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

7 January 2021

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Chromosome locations of human EMX and OTX genes

7 January 2021

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A homeotic gene cluster patterns the anteroposterior body axis of C. elegans

7 January 2021

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Emx and Otx homeobox genes in the developing mouse brain

7 January 2021

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Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

7 January 2021

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Mutations in human gonadotropin genes and their physiologic significance in puberty and reproduction

7 January 2021

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10.1016/S0015-0282(99)00376-3

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10560999%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference