Results of cochlear implantation in two children with mutations in the OTOF gene

Isabelle Rouillon, A. Marcolla, Isabelle Roux, +8

International Journal of Pediatric Otorhinolaryngology

Developmental BiologyHealth SciencesPediatric OtolaryngologyGeneticsAudiology +8

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

Christel Thauvin‐Robinet, À. Munck, Frédéric Huet, +40

Journal of Medical Genetics

Characteristics of disorders associated with genetic mutations of surfactant protein C

Guillaume Thouvenin, Rola Abou Taam, Florence Flamein, +11

Archives of Disease in Childhood

New surfactant protein C gene mutations associated with diffuse lung disease

Loïc Guillot, Ralph Epaud, Guillaume Thouvenin, +11

Journal of Medical Genetics

Screening of <i>SLC26A4</i> (<i>PDS</i>) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Hélène Blons, D Feldmann, Vincent Duval, +20

Clinical Genetics

Surfactant protein C gene (<i>SFTPC</i>) mutation‐associated lung disease: High‐resolution computed tomography (HRCT) findings and its relation to histological analysis

M. Mechri, Ralph Epaud, S. Emond, +10

Pediatric Pulmonology

A common NKCC2 mutation in Costa Rican Bartter's syndrome patients

C. Lisa Kurtz, Lothar Károlyi, Hannsjörg W. Seyberth, +7

Journal of the American Society of Nephrology

GeneticsRenal PathologyImmunologyGenetic EpidemiologyPathology +18

Germline mosaicism in keratitis–ichthyosis–deafness syndrome: pre‐natal diagnosis in a familial lethal form

É. Sbidian, D Feldmann, Joana Bengoa, +5

Clinical Genetics

Auditory Neuropathy or Endocochlear Hearing Loss?

Natalie Loundon, A. Marcolla, Isabelle Roux, +5

Otology & Neurotology

Phenotype and genotype in females with <i>POU3F4</i> mutations

Sandrine Marlin, MP Moizard, A. David, +7

Clinical Genetics