Results 161 to 170 of about 1,134 (197)

RNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome. [PDF]

Genes (Basel)
Silvey S, Lovell S, Butler MG.
europepmc   +1 more source

Developmental system drift in the patterning of the arthropod tarsus

Klementz BC, Neu SM, Laumer EM, Setton EV, Hinne IA, Barnett AA, Hämmerle M, Brenneis G, Gulia-Nuss M, Sharma PP.   +9 more
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Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.

JAMA Dermatol
Lebensohn A, Ghafoor A, Bloomquist L, Royer MC, Castelo-Soccio L, Karacki K, Hathaway O, Maglo T, Wagner C, Agra MG, Blakely AM, Schrump DS, Hassan R, Cowen EW.   +13 more
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Malformations of the index nails

Clinical and Experimental Dermatology, 2009
We report a 52-year-old woman with micronychia of the index fingers. Radiographic examination revealed a Y-shaped bifurcation of the distal phalanx of both index fingers. She was diagnosed with congenital onychodysplasia of the index fingers (COIF) or Iso-Kikuchi syndrome.
T P, Hussein, H R C, Brandt, T V B, Gabbi, M M S, Nico   +3 more
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Pregnancy‐associated acquired arteriovenous malformation of the nail unit: a novel cause of localized erythronychia

Journal of Cutaneous Pathology, 2012
Localized longitudinal erythronychia describes a solitary red streak limited to a single nail unit. Localized longitudinal erythronychia can be caused by both benign and malignant entities. Most commonly, the cause is a benign process, such as an onychopapilloma.
Suthinee, Rutnin, Jennifer V, Nguyen, Christopher J, Miller, Danielle, DeHoratius, Adam I, Rubin   +4 more
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Simpson–Golabi–Behmel syndrome type 1 in a 27‐week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia

American Journal of Medical Genetics Part A, 2012
AbstractThe Simpson–Golabi–Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X‐linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene.
Garavelli, L., Gargano, G., Simonte, G., Rosato, S., Wischmeijer, A., Melli, N., Braisanti, S., Gelmini, C., Forzano, Francesca, Pietrobono, Roberta, Pomponi, Maria Grazia, Andreucci, E, Toutain, A., Superti Furga, A., Neri, Giovanni   +14 more
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Correction d’une instabilité patellaire malformative dans le cadre d’un Nail-Patella Syndrome : à propos d’un cas et revue de la littérature

Revue de Chirurgie Orthopédique et Traumatologique, 2013
Summary Nail-patella syndrome (NPS) or hereditary onycho-osteodysplasia is a relatively rare autosomal dominant disorder with the classic tetrad of fingernail abnormalities, hypoplastic patellae, radial head dislocation and iliac horns. The anatomic abnormalities in NPS often lead to subluxation or dislocation of the patellae causing knee instability
S. Lippacher, E. Mueller-Rossberg, H. Reichel, M. Nelitz   +3 more
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Hoof nail deformity: a previously unknown hereditary nail malformation

British Journal of Dermatology, 2013
G.W. Jung, T.G. Salopek
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