CCHS PHOX2B

Ontology Lookup Service (OLS)

Congenital Central Hypoventilation Syndrome

Debra E.,Weese-Mayer, Casey M.,Rand, Ilya,Khaytin, Susan M.,Slattery, Kai Lee,Yap, Mary L.,Marazita, Elizabeth M.,Berry-Kravis

GeneReviews® · 1993-01-01

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.

I,Matera, T,Bachetti, F,Puppo, M,Di Duca, F,Morandi, G M,Casiraghi, M R,Cilio, R,Hennekam, R,Hofstra, J G,Schöber, R,Ravazzolo, G,Ottonello, I,Ceccherini

Journal of medical genetics · 2004-05-01

PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.

Nick A,Antic, Beth A,Malow, Neale,Lange, R Doug,McEvoy, Amy L,Olson, Peter,Turkington, Wolfram,Windisch, Martin,Samuels, Cathy A,Stevens, Elizabeth M,Berry-Kravis, Debra E,Weese-Mayer

American journal of respiratory and critical care medicine · 2006-07-27

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Nature reviews. Genetics · 2024-03-11

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.

Tiziana,Bachetti, Ivana,Matera, Silvia,Borghini, Marco,Di Duca, Roberto,Ravazzolo, Isabella,Ceccherini

Human molecular genetics · 2005-05-11

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Jeanne,Amiel, Béatrice,Laudier, Tania,Attié-Bitach, Ha,Trang, Loïc,de Pontual, Blanca,Gener, Delphine,Trochet, Heather,Etchevers, Pierre,Ray, Michel,Simonneau, Michel,Vekemans, Arnold,Munnich, Claude,Gaultier, Stanislas,Lyonnet

Nature genetics · 2003-03-17

Recurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism.

Huling,Jiang, Zepeng,Ping, Suping,Li, Jianjun,Zhu

Gene · 2024-03-11

Pulmonary hypertension in an adult patient with congenital central hypoventilation syndrome: a case report.

Yosuke,Terui, Shoko,Ohura, Tetsuji,Nozaki, Takuya,Yagi

European heart journal. Case reports · 2024-02-26

Alternative low-populated conformations prompt phase transitions in polyalanine repeat expansions.

Rosa,Antón, Miguel Á,Treviño, David,Pantoja-Uceda, Sara,Félix, María,Babu, Eurico J,Cabrita, Markus,Zweckstetter, Philip,Tinnefeld, Andrés M,Vera, Javier,Oroz

Nature communications · 2024-03-02

Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.

E E,Evers-Bikker, W,de Weerd, P J,Wijkstra, L,Corel, L P,Verweij, B A H,Vosse

European journal of pediatrics · 2023-11-25

Caroline B,Ferreira, Talita M,Silva, Phelipe E,Silva, Claudio L,Castro, Catherine,Czeisler, José J,Otero, Ana C,Takakura, Thiago S,Moreira

eLife · 2022-11-17

Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.

Ana Lucia,Cuadros Gamboa, Roberta,Benfante, Monica,Nizzardo, Tiziana,Bachetti, Paride,Pelucchi, Valentina,Melzi, Cinzia,Arzilli, Marta,Peruzzi, Rolland A,Reinbold, Silvia,Cardani, Amelia,Morrone, Renzo,Guerrini, Ileana,Zucchi, Stefania,Corti, Isabella,Ceccherini, Raffaele,Piumelli, Niccolò,Nassi, Simona,Di Lascio, Diego,Fornasari

Stem cell research · 2022-04-07

Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report.

Reihaneh,Khorasanian, Marzieh,Mojbafan, Nastaran,Khosravi

Molecular biology reports · 2021-10-09

Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.

Mei,Mei, Lin,Yang, Yulan,Lu, Laishuan,Wang, Guoqiang,Cheng, Yun,Cao, Chao,Chen, Liling,Qian, Wenhao,Zhou

Translational pediatrics · 2021-04-01

Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).

Amy,Zhou, Casey M,Rand, Sara M,Hockney, Grace,Niewijk, Patrick,Reineke, Virginia,Speare, Elizabeth M,Berry-Kravis, Lili,Zhou, Lawrence J,Jennings, Min,Yu, Isabella,Ceccherini, Tiziana,Bachetti, Melanie,Pennock, Kai Lee,Yap, Debra E,Weese-Mayer

Genetics in medicine : official journal of the American College of Medical Genetics · 2021-05-06