Results 61 to 70 of about 5,711 (254)

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]

, 2017
Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam, Barzegar, Mohammadreza, Fortina, Paolo, Karamzadeh, Razieh, Mansouri, Parvin, Mccormick, Kevin, Mohammadi asl, Javad, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +12 more
core   +1 more source

Hallermann-Streiff syndrome - Clinical and prognostic considerations [PDF]

, 1970
A patient with the Hallermann-Streiff syndrome showed significant findings, including demonstration of decreased thoracic compliance and a marked response of growth hormone to arginine stimulation. No metabolic or chromosomal defect could be demonstrated
Bass, J. W., Steele, R. W.
core   +1 more source

Comparative structures and evolution of vertebrate lipase H (LIPH) genes and proteins: a relative of the phospholipase A1 gene families [PDF]

, 2012
Lipase H (LIPH) is a membrane-bound phospholipase generating 2-acyl lysophosphatidic acid (LPA) in the body. LPA is a lipid mediator required for maintaining homeostasis of diverse biological functions and in activating cell surface receptors such as ...
Laura A. Cox, Roger S. Holmes
core   +1 more source

Christ siemens touraine syndrome: A rare case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2016
Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin.
N Retnakumari, Manuja Varghese, V P Kannan   +2 more
doaj   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Clinical Presentation of a Family Diagnosed With Marie Unna Hereditary Hypotrichosis 1 Caused by a Novel Variant in HRURF

Pediatric Dermatology, EarlyView.
ABSTRACT Marie Unna hereditary hypotrichosis 1 (MUHH1) is a rare autosomal dominant condition characterized by the absence or scarcity of hair at birth with the growth of coarse, wiry, and unruly hair during childhood and progressive hair loss after puberty.
Sarah Østergaard Holm, Lise Graversen, Anne Katrine Wrist Simonsen, Jenny Blechingberg, Laura Krogh Herlin, Kirsten Rønholt   +5 more
wiley   +1 more source

Prosthodontic management of anhidrotic ectodermal dysplasia

Indian Journal of Dental Research, 2011
Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent
Shilpy Gupta, Parimala Tyagi
doaj   +1 more source

Marie-Unna Hereditary Hypotrichosis

International Journal of Trichology, 2014
Marie-Unna type of hereditary hypotrichosis is a rare autosomal dominant disorder that has a distinctive type of hair loss pattern that varies with child's age. It is characterized by sparse or absent hair at birth with regrowth of coarse, wiry twisted hair from childhood, followed by progressive loss on approaching puberty.
Ravi Hiremagalore, Sahana M Srinivas
openaire   +4 more sources

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation [PDF]

, 2016
BACKGROUND: Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.
Bygum, Anette, Clemmensen, Ole, Gjørup, Hans, Hertz, Jens Michael, Krøigård, Anne Bruun   +4 more
core   +1 more source

World Association for Veterinary Dermatology Consensus Statement for Diagnosis, and Evidence‐Based Clinical Practice Guidelines for Treatment and Prevention of Canine Leishmaniosis

Veterinary Dermatology, EarlyView.
Hyperkeratosis of (a) the footpads and (b) the nasal planum. ABSTRACT Background Canine leishmaniosis (CanL) due to Leishmania infantum remains common, and veterinarians do not always follow scientifically sound approaches for diagnosis, treatment and prevention. Objectives To provide consensus guidelines for diagnosis and evidence‐based guidelines for
Manolis N. Saridomichelakis, Gad Baneth, Silvia Colombo, Filipe Dantas‐Torres, Lluís Ferrer, Alessandra Fondati, Guadalupe Miró, Laura Ordeix, Domenico Otranto, Chiara Noli   +9 more
wiley   +1 more source