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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Journal of medical genetics, 2015-08, Vol.52 (8), p.514-522

2015

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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

Nature genetics, 2001-01, Vol.27 (1), p.20-21

2001

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Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C

Neurology, 2003-01, Vol.60 (1), p.22

2003

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Journal of medical genetics, 2010-01, Vol.47 (1), p.8-21

2010

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Microarray Analysis Reveals Overexpression of both Integral Membrane and Cytosolic Tight Junction Genes in Endometrial Cancer Cell Lines

Journal of Cancer, 2022-01, Vol.13 (14), p.3533-3538

2022

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SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

Neurology, 2009-05, Vol.72 (20), p.1755

2009

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Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

Science (American Association for the Advancement of Science), 1993-12, Vol.262 (5142), p.2039-2042

1993

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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

Journal of medical genetics, 2006-04, Vol.43 (4), p.334-339

2006

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Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

Journal of medical genetics, 2010-09, Vol.47 (9), p.601-607

2010

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A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome

Immunogenetics (New York), 2001-08, Vol.53 (6), p.435-439

2001

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Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation - a family study

Clinical genetics, 2008-09, Vol.74 (3), p.279-283

2008

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DNA deletion associated with hereditary neuropathy with liability to pressure palsies

Cell, 1993-01, Vol.72 (1), p.143-151

1993

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The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

American journal of human genetics, 2004-07, Vol.75 (1), p.82-91

2004

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Late-onset hereditary axonal neuropathies

Neurology, 2008-07, Vol.71 (1), p.14

2008

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Structure guided development of potent piperazine-derived hydroxamic acid inhibitors targeting falcilysin

Bioorganic & medicinal chemistry letters, 2021-01, Vol.32, p.127683-127683, Article 127683

2021

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In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome

Neurogenetics, 2007, Vol.8 (1), p.45-49

2007

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Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34

American journal of human genetics, 1998-03, Vol.62 (3), p.633-640

1998

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Corrigendum to “Structure guided development of potent piperazine-derived hydroxamic acid inhibitors targeting falcilysin” [Bioorg. Med. Chem. Lett. 32 (2021) 127683]

Bioorganic & medicinal chemistry letters, 2021-04, Vol.37, p.127836-127836, Article 127836

2021

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X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3

American journal of human genetics, 2000-02, Vol.66 (2), p.461-468

2000

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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

Human molecular genetics, 1994-02, Vol.3 (2), p.223-228

1994

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Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes

American journal of medical genetics, 2004-03, Vol.125A (2), p.125-134

2004

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Native Species Abundance Buffers Non-Native Plant Invasibility following Intermediate Forest Management Disturbances

Forest science, 2019-05, Vol.65 (3), p.336-343

2019

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Development of piperazine-based hydroxamic acid inhibitors against falcilysin, an essential malarial protease

Bioorganic & medicinal chemistry letters, 2018-06, Vol.28 (10), p.1846-1848

2018

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Autosomal dominant juvenile amyotrophic lateral sclerosis

Brain (London, England : 1878), 1999-08, Vol.122 (8), p.1539-1550

1999

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Primate Origin of the CMT1A-REP Repeat and Analysis of a Putative Transposon-Associated Recombinational Hotspot

Human molecular genetics, 1996-06, Vol.5 (6), p.745-753

1996

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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Microarray Analysis Reveals Overexpression of both Integral Membrane and Cytosolic Tight Junction Genes in Endometrial Cancer Cell Lines

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation - a family study

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

Late-onset hereditary axonal neuropathies

Structure guided development of potent piperazine-derived hydroxamic acid inhibitors targeting falcilysin

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome

Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34

Corrigendum to “Structure guided development of potent piperazine-derived hydroxamic acid inhibitors targeting falcilysin” [Bioorg. Med. Chem. Lett. 32 (2021) 127683]

X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes

Native Species Abundance Buffers Non-Native Plant Invasibility following Intermediate Forest Management Disturbances

Development of piperazine-based hydroxamic acid inhibitors against falcilysin, an essential malarial protease

Autosomal dominant juvenile amyotrophic lateral sclerosis

Primate Origin of the CMT1A-REP Repeat and Analysis of a Putative Transposon-Associated Recombinational Hotspot

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