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65 in total

1. ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.

Authors: Franck Bourdeaut; Sandrine Ferrand; Laurence Brugières; Marjorie Hilbert; Agnès Ribeiro; Ludovic Lacroix; Jean Bénard; Valérie Combaret; Jean Michon; Dominique Valteau-Couanet; Bertrand Isidor; Xavier Rialland; Maryline Poirée; Anne-Sophie Defachelles; Michel Peuchmaur; Gudrun Schleiermacher; Gaëlle Pierron; Marion Gauthier-Villars; Isabelle Janoueix-Lerosey; Olivier Delattre
Journal: Eur J Hum Genet Date: 2011-11-09 Impact factor: 4.246

2. Germline PHOX2B mutation in hereditary neuroblastoma.

Authors: Yael P Mosse; Marci Laudenslager; Deepa Khazi; Alex J Carlisle; Cynthia L Winter; Eric Rappaport; John M Maris
Journal: Am J Hum Genet Date: 2004-10 Impact factor: 11.025

3. Congenital central hypoventilation syndrome: four families.

Authors: Amit Trivedi; Karen Waters; Sadasivam Suresh; Rashmi Nair
Journal: Sleep Breath Date: 2010-11-14 Impact factor: 2.816

4. Presentation and treatment of monozygotic twins with congenital central hypoventilation syndrome.

Authors: Reshma Amin; Andrea Riekstins; Suhail Al-Saleh; Colin Massicotte; Allan L Coates; Ian MacLusky
Journal: Can Respir J Date: 2011 Mar-Apr Impact factor: 2.409

5. Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.

Authors: Ulrike Hennewig; Berit Hadzik; Markus Vogel; Thomas Meissner; Timm Goecke; Hartmut Peters; Georg Selzer; Ertan Mayatepek; Thomas Hoehn
Journal: J Hum Genet Date: 2008-03-14 Impact factor: 3.172

6. Intelligent volume-assured pressured support (iVAPS) for the treatment of congenital central hypoventilation syndrome.

Authors: Abdullah Khayat; Debra Medin; Faiza Syed; Theo J Moraes; Saadoun Bin-Hasan; Indra Narang; Suhail Al-Saleh; Reshma Amin
Journal: Sleep Breath Date: 2017-02-11 Impact factor: 2.816

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.

1. ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.

2. Germline PHOX2B mutation in hereditary neuroblastoma.

3. Congenital central hypoventilation syndrome: four families.

4. Presentation and treatment of monozygotic twins with congenital central hypoventilation syndrome.

5. Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.

6. Intelligent volume-assured pressured support (iVAPS) for the treatment of congenital central hypoventilation syndrome.

7. Reduced caudate nuclei volumes in patients with congenital central hypoventilation syndrome.

8. Novel neuropathologic findings in the Haddad syndrome.

Review 9. Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes.

10. Obstructive sleep apnea syndrome (OSAS) in children with Class III malocclusion: involvement of the PHOX2B gene.