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Results for
""Uniparental Disomy""[mesh_terms]

13 Results

Searching titles within these results

Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.

D Kotzot

Journal of medical genetics 2001;38(8):497-507

Effect of lifestyle exposures on sperm aneuploidy.

W A Robbins, D A Elashoff, L Xun, J Jia, N Li, G Wu, F Wei

Cytogenetic and genome research 2006;111(3-4):371-7

Complex and segmental uniparental disomy updated.

D Kotzot

Journal of medical genetics 2008;45(9):545-56

Prenatal testing for uniparental disomy: indications and clinical relevance.

D Kotzot

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2008;31(1):100-5

Epidermolysis bullosa in three Chinese neonates.

Kam-Lun Ellis Hon, Andrew Burd, Paul Cheung-Lung Choi, Nai-Ming Tommy Luk

The Journal of dermatological treatment 2007;18(5):306-11

Recent Advances in Imprinting Disorders.

M Begemann, L Soellner, D J G Mackay, K Grønskov, Z Tümer, E R Maher, I K Temple, D Monk, A Riccio, A Linglart, I Netchine, T Eggermann

Clinical genetics 2017;91(1):3-13

Beckwith-Wiedemann syndrome.

Rosanna Weksberg, Cheryl Shuman, Sanaa Choufani

American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(3):343-54

Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B).

Rieko Takatani, Masanori Minagawa, Angelo Molinaro, Monica Reyes, Kaori Kinoshita, Tomozumi Takatani, Itsuro Kazukawa, Misako Nagatsuma, Kenichi Kashimada, Kenichi Sato, Kazuyuki Matsushita, Fumio Nomura, Naoki Shimojo, Harald Jüppner

Bone 2016;79():15-20

Transient neonatal diabetes, a disorder of imprinting.

I K Temple, J P H Shield

Journal of medical genetics 2003;39(12):872-5

Fetal growth restriction: the etiology.

Dev Maulik

Clinical obstetrics and gynecology 2008;49(2):228-35

New advances in the pathogenesis and therapy of essential thrombocythemia.

Ross L Levine, Mark Heaney

Hematology. American Society of Hematology. Education Program 2009

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

Anne Barlier, Bettina Brix, Francesca M Elli, Kathleen Freson, Virginie Grybek, Benedetta Izzi, Guiomar Perez de Nanclares, Caroline Silve, Susanne Thiele, Ralf Werner, Agnès Linglart, Giovanna Mantovani, Urko Aguirre, Intza Garin

European journal of human genetics : EJHG 2015;23(4):438-44

Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting.

Dieter Kotzot

Annales de genetique 2004;47(3):251-60

Results: 1 – 13 / 13

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