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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Molecular genetics and metabolism, 2014-06, Vol.112 (2), p.160-170

2014

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An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

Clinical genetics, 2009-10, Vol.76 (4), p.372-382

2009

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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

Journal of medical genetics, 2010-09, Vol.47 (9), p.608-615

2010

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Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C

Journal of neurology, neurosurgery and psychiatry, 2005-04, Vol.76 (4), p.592-595

2005

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Screening patients referred to a metabolic clinic for lysosomal storage disorders

Journal of medical genetics, 2011-06, Vol.48 (6), p.422-425

2011

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Quantitative effects of hedgehog and decapentaplegic activity on the patterning of the Drosophila wing

Current biology, 1995-04, Vol.5 (4), p.432-440

1995

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Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin the the hair follicle

The Journal of cell biology, 1993-05, Vol.121 (4), p.855-865

1993

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Secretion of the amino-terminal fragment of the Hedgehog protein is necessary and sufficient for hedgehog signalling in Drosophila

Current biology, 1995-06, Vol.5 (6), p.643-650

1995

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Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency

Prenatal diagnosis, 2002-01, Vol.22 (1), p.38-41

2002

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Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population

Prenatal diagnosis, 2003-12, Vol.23 (12), p.1023-1025

2003

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Hemangioma of the small intestine : case report and literature review

The American journal of gastroenterology, 1995-11, Vol.90 (11), p.2063-2064

1995

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The cDNA-Deduced Amino Acid Sequence for Trichohyalin, A Differentiation Marker in the Hair Follicle, Contains a 23 Amino Acid Repeat

The Journal of cell biology, 1990-02, Vol.110 (2), p.427-436

1990

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Study of human papillomavirus infection in patients with anal squamous carcinoma

Diseases of the colon & rectum, 1996-01, Vol.39 (1), p.37-39

1996

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Mapping of the Trichohyalin Gene: Co-Localization with the Profilaggrin, Involucrin, and Loricrin Genes

Journal of investigative dermatology, 1992-11, Vol.99 (5), p.542-544

1992

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Clustered Arrangement of Keratin Intermediate Filament Genes

Proceedings of the National Academy of Sciences - PNAS, 1986-07, Vol.83 (14), p.5048-5052

1986

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Corrigendum to “Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations” [Mol. Genet. Metab. 112 (2014) 160–170]

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.237-237

2014

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The hedgehog gene family in Drosophila and vertebrate development

Development (Cambridge), 1994, Vol.1994 (Supplement), p.43-51

1994

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An Australasian diagnostic service for the neuronal ceroid lipofuscinoses

European journal of paediatric neurology, 2001, Vol.5, p.197-201

2001

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Diagnosis of lysosomal storage disorders: current techniques and future directions

Expert review of molecular diagnostics, 2004-09, Vol.4 (5), p.677-691

2004

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Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant‐negative mechanism

Developmental dynamics, 2004-04, Vol.229 (4), p.780-790

2004

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Perineal excision of rectal procidentia in elderly high-risk patients. A ten-year experience

Diseases of the colon & rectum, 1994-10, Vol.37 (10), p.1027-1030

1994

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Correlation among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity

Molecular genetics and metabolism, 2002-01, Vol.75 (1), p.46-55

2002

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Trichohyalin and Matrix Proteins

Annals of the New York Academy of Sciences, 1991-12, Vol.642 (1), p.64-80

1991

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Study of human papillomavirus infection in patient with anal squamous cacinoma

Diseases of the colon & rectum, 1996, Vol.39 (1), p.37-39

1996

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Special Biochemical Features of the Hair Follicle

The Biology of Wool and Hair, p.69-85

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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C

Screening patients referred to a metabolic clinic for lysosomal storage disorders

Quantitative effects of hedgehog and decapentaplegic activity on the patterning of the Drosophila wing

Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin the the hair follicle

Secretion of the amino-terminal fragment of the Hedgehog protein is necessary and sufficient for hedgehog signalling in Drosophila

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency

Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population

Hemangioma of the small intestine : case report and literature review

The cDNA-Deduced Amino Acid Sequence for Trichohyalin, A Differentiation Marker in the Hair Follicle, Contains a 23 Amino Acid Repeat

Study of human papillomavirus infection in patients with anal squamous carcinoma

Mapping of the Trichohyalin Gene: Co-Localization with the Profilaggrin, Involucrin, and Loricrin Genes

Clustered Arrangement of Keratin Intermediate Filament Genes

Corrigendum to “Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations” [Mol. Genet. Metab. 112 (2014) 160–170]

The hedgehog gene family in Drosophila and vertebrate development

An Australasian diagnostic service for the neuronal ceroid lipofuscinoses

Diagnosis of lysosomal storage disorders: current techniques and future directions

Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant‐negative mechanism

Perineal excision of rectal procidentia in elderly high-risk patients. A ten-year experience

Correlation among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity

Trichohyalin and Matrix Proteins

Study of human papillomavirus infection in patient with anal squamous cacinoma

Special Biochemical Features of the Hair Follicle

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