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  1. Article

    Open Access

    ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison

    Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD...

    Sarah F. Barclay, Casey M. Rand, Lisa Nguyen… in Orphanet Journal of Rare Diseases (2018)

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  2. Article

    Open Access

    Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

    Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is thought to be a genetic disease caused by de novo mutations, though causative mutations have yet to be i...

    Sarah F. Barclay, Casey M. Rand, Lauren A. Borch… in Orphanet Journal of Rare Diseases (2015)

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  3. No Access

    Chapter and Conference Paper

    Congenital Stationary Night Blindness: Mutation Update and Clinical Variability

    Congenital stationary night blindness (CSNB) represents a group of low vision disorders with abnormal retinal neurotransmission where patients can exhibit reduced visual acuity, impaired night vision, myopia, ...

    Nidhi Lodha, Catrina M. Loucks, Chandree Beaulieu… in Retinal Degenerative Diseases (2012)

  4. No Access

    Article

    Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick

    We describe the isolation and molecular characterization of the chick ortholog of nyctalopin (NYX), the gene responsible for X-linked complete congenital stationary night blindness (CSNB1, also known as cCSNB). C...

    N. Torben Bech-Hansen, Josh Cockfield, Dan Liu, C. Cairine Logan in Mammalian Genome (2005)

  5. No Access

    Article

    Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

    During development, visual photoreceptors, bipolar cells and other neurons establish connections within the retina enabling the eye to process visual images over approximately 7 log units of illumination1. Within...

    N.Torben Bech-Hansen, Margaret J. Naylor, Tracy A. Maybaum… in Nature Genetics (2000)

  6. No Access

    Article

    Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

    X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus1,2,3. Two distinct...

    N. Torben Bech-Hansen, Margaret J. Naylor, Tracy A. Maybaum… in Nature Genetics (1998)

  7. No Access

    Article

    Restriction fragment length polymorphisms associated with immunoglobulin heavy chain gamma genes in Tunisians

    DNA polymorphisms in the human immunoglobulin gamma (γ) region have been studied in random Arabo-Berber Tunisians and in a large Tunisian Berber kindred. Haplotypes have then been designated, based on variatio...

    Hassen Chaabani, N. Torben Bech-Hansen, Diane W. Cox in Human Genetics (1986)