Results 311 to 320 of about 990,174 (349)

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 more
wiley   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

[A case of 46,XX testicular disorders of sex development due to an apparent synonymous variant in the <i>WT1</i> gene: difficulties of differential diagnosis of intrauterine virililzation syndrome in a girl]. [PDF]

Probl Endokrinol (Mosk)
Buianova AA, Vorontsova IG, Samitova AF, Vasiliadis YA, Petryaykina EE, Demina ES, Tyulpakov AN.   +6 more
europepmc   +1 more source

[Clinical, hormonal and molecular genetic characteristics of patients with 46,XY disorders of sex development associated with variants in the <i>HSD17B3</i> gene]. [PDF]

Probl Endokrinol (Mosk)
Kalinchenko NY, Makretskaya NA, Kolodkina AA, Ioutsi VA, Petrov VM, Tyulpakov AN.   +5 more
europepmc   +1 more source

Disorders of Sex Development

Endocrine Conditions in Pediatrics, 2020
Disorders of Sex Development includes a range of conditions where there may be genital ambiguity at birth or becomes evident later in childhood. It occurs as a result of errors in development of external and internal genital structures. The diagnosis and management of these conditions requires a multidisciplinary approach with shared decision making ...
Patricia Y. Fechner, M. Shnorhavorian
semanticscholar   +9 more sources

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Disorders of sex development

Seminars in Fetal and Neonatal Medicine, 2011
Infants born with ambiguous genitalia represent a complex clinical challenge. A systematic clinical investigation aims at determining the hormone production and which anatomical structures are present in order to understand at what level the sex differentiation has been affected; chromosomal, gonadal or hormonal synthesis and action levels.
Anna Nordenström, Anna Wedell, M. Barbaro   +2 more
openaire   +4 more sources