Histopathology of the Human Inner Ear in Alström Syndrome

Tekijä Nadol, Joseph B., Marshall, Jan D., Bronson, Roderick T.
Julkaisussa Audiol Neurootol (2015)

Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

Tekijä Mihai, Cristina M, Marshall, Jan D, Stoicescu, Ramona M
Julkaistu 2011

Alström Syndrome: Genetics and Clinical Overview

Tekijä Marshall, Jan D, Maffei, Pietro, Collin, Gayle B, Naggert, Jürgen K
Julkaistu 2011

Clinical utility gene card for: Alström syndrome

Tekijä Marshall, Jan D, Maffei, Pietro, Beck, Sebastian, Barrett, Timothy G, Paisey, Richard B
Julkaistu 2011

Clinical utility gene card for: Alström Syndrome - update 2013

Tekijä Marshall, Jan D, Maffei, Pietro, Beck, Sebastian, Barrett, Timothy G, Paisey, Richard, Naggert, Jürgen K
Julkaistu 2013

Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability

Tekijä Frölander, Hans-Erik, Möller, Claes, Rudner, Mary, Mishra, Sushmit, Marshall, Jan D., Piacentini, Heather, Lyxell, Björn
Julkaisussa Front Psychol (2015)

Respiratory Manifestations in 38 Patients With Alström Syndrome

Tekijä Boerwinkle, Caroline, Marshall, Jan D., Bryant, Joy, Gahl, William A., Olivier, Kenneth N., Gunay-Aygun, Meral
Julkaisussa Pediatr Pulmonol (2016)

Alström Syndrome: Cardiac Magnetic Resonance findings

Tekijä Corbetti, Francesco, Razzolini, Renato, Bettini, Vera, Marshall, Jan D, Naggert, Jurgen, Tona, Francesco, Milan, Gabriella, Maffei, Pietro
Julkaistu 2012

Novel Alu Retrotransposon Insertion Leading to Alström Syndrome

Tekijä Taşkesen, Mustafa, Collin, Gayle B., Evsikov, Alexei V., Güzel, Ayşegül, Özgül, R. Köksal, Marshall, Jan D., Naggert, Jürgen K.
Julkaistu 2011

The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway

Tekijä Collin, Gayle B., Marshall, Jan D., King, Benjamin L., Milan, Gabriella, Maffei, Pietro, Jagger, Daniel J., Naggert, Jürgen K.
Julkaistu 2012

GLUT4 Defects in Adipose Tissue Are Early Signs of Metabolic Alterations in Alms1(GT/GT), a Mouse Model for Obesity and Insulin Resistance

Tekijä Favaretto, Francesca, Milan, Gabriella, Collin, Gayle B., Marshall, Jan D., Stasi, Fabio, Maffei, Pietro, Vettor, Roberto, Naggert, Jürgen K.
Julkaistu 2014

Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader–Willi and Alström syndromes

Tekijä Butler, Merlin G, Wang, Kun, Marshall, Jan D, Naggert, Jürgen K, Rethmeyer, Jasmine A, Gunewardena, Sumedha S, Manzardo, Ann M
Julkaisussa Adv Genomics Genet (2015)

Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome

Tekijä Mahamid, Jamal, Lorber, Avraham, Horovitz, Yoseph, Shalev, Stavit A, Collin, Gayle B, Naggert, Jürgen K, Marshall, Jan D, Spiegel, Ronen
Julkaistu 2012

Caloric restriction in Alström syndrome prevents hyperinsulinemia

Tekijä Lee, Ni-Chung, Marshall, Jan D., Collin, Gayle B., Naggert, Jürgen K., Chien, Yin-Hsiu, Tsai, Wen-Yu, Hwu, Wuh-Liang
Julkaistu 2009

PITUITARY MORPHOVOLUMETRIC CHANGES IN ALSTRÖM SYNDROME

Tekijä Citton, Valentina, Maffei, Pietro, Marshall, Jan D, Baglione, Alessandro, Collin, Gayle B., Milan, Gabriella, Vettor, Roberto, Naggert, Jürgen K., Manara, Renzo
Julkaisussa J Neuroradiol (2015)

Spectral-domain optical coherence tomography findings in Alström syndrome

Tekijä Dotan, Gad, Khetan, Vikas, Marshall, Jan D., Affel, Elizabeth, Armiger-George, Denise, Naggert, Jürgen K, Collin, Gayle B, Levin, Alex V.
Julkaisussa Ophthalmic Genet (2017)

Protection From Clinical Peripheral Sensory Neuropathy in Alström Syndrome in Contrast to Early-Onset Type 2 Diabetes

Tekijä Paisey, Richard B., Paisey, Rosamund M., Thomson, Mary P., Bower, Lynne, Maffei, Pietro, Shield, Julian P.H., Barnett, Sue, Marshall, Jan D.
Julkaistu 2009

Brain involvement in Alström syndrome

Tekijä Citton, Valentina, Favaro, Angela, Bettini, Vera, Gabrieli, Joseph, Milan, Gabriella, Greggio, Nella Augusta, Marshall, Jan D, Naggert, Jürgen K, Manara, Renzo, Maffei, Pietro
Julkaistu 2013

Long-term Clinical Follow-up and Molecular Testing for Diagnosis of the First Tunisian Family with Alström Syndrome

Tekijä Chakroun, Amine, Ben said, Mariem, Ennouri, Amine, Achour, Imen, Mnif, Mouna, Abid, Mohamed, Ghorbel, Abdelmonem, Marshall, Jan D, Naggert, Jürgen K, Masmoudi, Saber
Julkaisussa Eur J Med Genet (2016)

Differences in the clinical spectrum of two adolescent male patients with Alström syndrome

Tekijä Kuburović, Vladimir, Marshall, Jan D., Collin, Gayle B., Nykamp, Keith, Kuburović, Nina, Milenković, Tatjana, Rakić, Sanja, Djuric, Milena, Ječmenica, Jovana, Milenković, Svetislav, Naggert, Jürgen K.
Julkaistu 2013