latest news, studies & research. . .

Help us grow our research database!


Manifesting carriers of X-linked myotubular myopathy - 09/20


Symptomatic female carriers of mutations in the Duchenne muscular dystrophy gene - 09/20

Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank - 03/20

X-Linked intellectual disability: Phenotypical expression in carrier females - 11/19

Aging Raises Risk of Women Developing ALD Symptoms or More Severe Disease, Study Says - 11/19

X-Linked Emery-Dreifuss Muscular Dystrophy: Study of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers - 11/19

Female Patients and Their Doctors Must be More Aware of Fabry Symptoms, Treatment, Study Says - 04/19

Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom - 03/19


Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis02/19

Clinical and genetic characteristics of female dystrophinopathy carriers - 02/19


Disease progression in women with X-linked adrenoleukodystrophy is slow 01/19

Skewed X-inactivation is common among the general female population - 12/18

Natural history of a cohort of ABCD1 variant female carriers - 10/18

Clinical profile of women diagnosed with Fabry disease not receiving enzyme replacement therapy - 10/18

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene - 08/18

Natural history of a cohort of ABCD1 variant female carriers - 07/18


Women with bleeding disorders - 05/18

The Process of Disclosure: Mothers' Experiences of Communicating X-Linked Carrier Risk Information to At-Risk Daughters - 03/18

X-linked carriers of x-linked granulomatous disease: illness, lyonization, and stability - 05/17


Understanding X-linked adrenoleukodystrophy in women - 02/17


X-Linked CGD Carriers, Long Overlooked, Are Getting More Attention - 02/16


A case study of choroideremia carrier-Use of multri-spectral imagine in highlighting clinical features - 01/16


A Surprising Number of Female Carriers are Affected by X-Linked Retinitis Pigmentosa - 08/15


The genetic landscape of X-linked adrenoleukodystrophy - 03/15


Females with FVIII and FIX deficiency have reduced joint range of motion - 08/14


Bladder & bowel dysfunction in female carriers of X-linked adrenomyeloneuropathy - 06/14


X-linked adrenoleukodystrophy in women:  a cross-sectional cohort study - 01/14


Female Carriers of Duchenne Muscular Dystrophy - 12/13


X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers - 07/12


Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated - 02/12

Choroideremia: Effect of age on visual acuity in patients and female carriers - 11/11

Pelizaeus-Merzbacher disease in female carriers - 10/11


Assessment of Phenotypic Variability Among Female Carriers of X-linked Retinitis Pigmentosa - 02/11