Jeghers

Je·ghers

(jā'gĕrz),
Harold, U.S. internist, 1904-1990. See: Peutz-Jeghers syndrome, Jeghers-Peutz syndrome.
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Harold Jeghers was a well-known medical educator of the twentieth century who contributed to defining Peutz-Jeghers syndrome [1, 2].
The differential diagnosis of diffuse pigmention in the oral mucosa of a 4yr old child included racial (physiologic) pigmentation and Peutz jeghers syndrome.
5) Highly penetrant genetic mutations in TP53 (Li-Fraumeni syndrome), PTEN (Cowden syndrome), CDH1 (Hereditary Diffuse Gastric Cancer syndrome), and STK11 (Peutz Jeghers syndrome) have long been recognized as possible causes of hereditary breast cancer, and now panel testing includes these along with moderately penetrant genes such as checkpoint kinase 2 (CHEK2), ATM serine/ thereonine kinase (ATM), and partner and localizer of BRCA2 (PALB2).
Peutz Jeghers Syndrome which produces intestinal polyposis and melanin pigmentation in the oral mucosa and lips.
Fakat en once dusunulmesi gereken Peutz Jeghers Sendromu'dur (PJS).
Peutz Jeghers syndrome is not associated with protein-losing gastroenteropathy.
INTRODUCCION: El sindrome de Peutz Jeghers es un trastorno hereditario autosomico dominante que se caracteriza por la presencia de polipos hamartomatosos gastrointestinales y pigmentacion mucocutanea.
Topics featured will include: Structure and Regulation of AMPK; Physiology of AMPK in Muscle and Diabetes; LKB1 Regulation of AMPK and mTOR; LKB1 and Novel Treatments for Peutz Jeghers Syndrome; LKB1 and the MARK Kinases in Drosophila.
com INTRAHEPATIC BILE DUCT PAUCITY See: Alagille Syndrome INTRAUTERINE GROWTH RETARDATION See: Growth Disorders ISOVALERIC ACIDEMIA (IVA) See: Acidemia, Organic ISOVALERYL-COA CARBOXYLASE DEFICIENCY See: Acidemia, Organic JANSKY-BIEL SCHOWSKY DISEASE See: Batten Disease; Tay-Sachs Disease JEGHERS SYNDROME See: Colon Cancer, Hereditary; Polyposis JERVELL & LANGE-NIELSEN SYNDROME See: Hearing Impairments; Long Q-T Syndrome JEUNE SYNDROME See: Growth Disorders JOHANSON-BLIZZARD SYNDROME See: Craniofacial Disorders; Ectodermal Dysplasias; Growth Disorders; Hearing Impairments; Short Stature JORGENSON SYNDROME See: Ectodermal Dysplasias JOUBERT SYNDROME See also: Apnea, Sleep Joubert Syndrome Foundation 1931 S, Carlinda Columbia, MD 21046 (410) 997-8094 * joubertduquette@comcast.
Brownish or opalescent baby teeth may be the first sign of osteogenesis imperfecta, while freckle-like spots on the lips may indicate intestinal polyposis, as in Peutz Jeghers syndrome.
The eponym Peutz Jeghers syndrome was originally put forward in 1954 by Bruwer et al.
com INTRAHEPATIC BILE DUCT PAUCITY See: Alagille Syndrome INTRAUTERINE GROWTH RETARDATION See: Growth Disorders ISOVALERIC ACIDEMIA (IVA) See: Acidemia, Organic ISOVALERYL-COA CARBOXYLASE DEFICIENCY See: Acidemia, Organic JANSKY-BIEL SCHOWSKY DISEASE See: Batten Disease; Tay-Sachs Disease JEGHERS SYNDROME See: Peutz-Jeghers Syndrome; Polyposis JERVELL & LANGE-NIELSEN SYNDROME See: Hearing Impairments; Long Q-T Syndrome JEUNE SYNDROME See: Growth Disorders JOHANSON-BLIZZARD SYNDROME See: Craniofacial Disorders; Ectodermal Dysplasias; Growth Disorders; Hearing Impairments; Short Stature JORGENSON SYNDROME See: Ectodermal Dysplasias JOUBERT SYNDROME See also: Apnea, Sleep Joubert Syndrome Foundation 12348 Summer Meadow Rd.