Marita Lipsanen-Nyman

university of helsinki

H指数:28

被引数:2,571

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Craniofacial growth in Mulibrey nanism and impact of growth hormone treatment

Mulibrey侏儒症中的颅面生长及生长激素治疗的影响

Orphanet Journal of Rare Diseases

IF3.5

2026-09-090

Germline mutations in a G protein identify signaling cross-talk in T cells

G蛋白配体生殖系突变确定了T细胞中的信号交叉对话

Science

IF45.8

2024-01-010

Hyoungjun Ham; Huie Jing; Ian T. Lamborn; Megan M. Kober; Alexey Koval; Yamina A. Berchiche; David Eric Anderson; Kirk M. Druey; Judith N. Mandl; Bertrand Isidor; Carlos R. Ferreira; Alexandra F. Freeman; Sundar Ganesan; Meliha Karsak; Peter Mustillo; Juliana Teo; Zarazuela Zolkipli‐Cunningham; Nicolas Chatron; François Lecoquierre; Andrew J. Oler; Jana Pachlopnik Schmid; Douglas Byron Kuhns; Xuehua Xu; Fabian H. Hauck; Waleed Al–Herz; Matias Wagner; Paulien A. Terhal; Mari Muurinen; Vincent Barlogis; Phillip Cruz; Jeffrey J. Danielson; Helen Stewart; Petra Loid; Sebastian Rading; Boris Keren; Rolph Pfundt; Kol A. Zarember; Katharina Vill; Lorraine Potocki; Kenneth N. Olivier; Gaëtan Lesca; Laurence Olivier Faivre; Melanie Wong; Anne Puel; Janet S. Chou; Maud Tusseau; Niki Maria Moutsopoulos; Helen F Matthews; Cas Simons; Ryan J. Taft; Ariane G. Soldatos; Etienne Masle‐Farquhar; Stefania Pittaluga; Robert Adrian Brink; Danielle L. Fink; Heidi H. Kong; Juraj Kabát; Woo Sung Kim; Tatjana Bierhals; Kazuyuki Meguro; Amy P. Hsu; Jingwen Gu; Jennifer L. Stoddard; Benito Baños-Piñero; Maria A. Slack; Giampaolo Trivellin; Benoît Mazel; Maarja Soomann; Samuel T. Li; Val J. Watts; Constantine A. Stratakis; Maria F. Rodriguez-Quevedo; Ange‐Line Bruel; Marita Lipsanen‐Nyman; Paul Saultier; Rashmi Jain; Daphné Lehalle; Daniel Torres; Kathleen E. Sullivan; S. Barbarot; Axel Dietmar Neu; Yannis Duffourd; Morgan N. Similuk; Kirsty M. McWalter; Pierre Blanc; Stéphane Bezieau; Tian Jin; Raif S. Geha; Jean‐Laurent Casanova; Outi Mäkitie; Christian Kubisch; Patrick Edery; John Christodoulou; Ronald N. Germain; Christopher Carl Goodnow; Thomas P. Sakmar; Daniel D. Billadeau; Sébastien Küry; Vladimir L. Katanaev; Yu Zhang; Michael J. Lenardo; Helen C. Su

Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism)

LIVER INTERNATIONAL

IF5.2

2022-03-082

OAAI

TRIM37 prevents formation of centriolar protein assemblies by regulating Centrobin

ELIFE

IF0

2021-01-2515

Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity

FRONTIERS IN ENDOCRINOLOGY

IF4.6

2020-02-2124

OAAI

Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder

HUMAN REPRODUCTION

IF6.1

2018-06-0112

OAAI

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

SCIENTIFIC REPORTS

IF3.9

2017-11-1616

OAAI

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

NATURE COMMUNICATIONS

IF15.7

2017-11-0331

OAAI

Tommiska, Johanna; Kansakoski, Johanna; Skibsbye, Lasse; Vaaralahti, Kirsi; Liu, Xiaonan; Lodge, Emily J.; Tang, Chuyi; Yuan, Lei; Fagerholm, Rainer; Kanters, Jorgen K.; Lahermo, Paivi; Kaunisto, Mari; Keski-Filppula, Riikka; Vuoristo, Sanna; Pulli, Kristiina; Ebeling, Tapani; Valanne, Leena; Sankila, Eeva-Marja; Kivirikko, Sirpa; Laaperi, Mitja; Casoni, Filippo; Giacobini, Paolo; Phan-Hug, Franziska; Buki, Tal; Tena-Sempere, Manuel; Pitteloud, Nelly; Veijola, Riitta; Lipsanen-Nyman, Marita; Kaunisto, Kari; Mollard, Patrice; Andoniadou, Cynthia L.; Hirsch, Joel A.; Varjosalo, Markku; Jespersen, Thomas; Raivio, Taneli

Bone Characteristics and Their Determinants in Adolescents and Young Adults with Early-Onset Severe Obesity

CALCIFIED TISSUE INTERNATIONAL

IF3.2

2015-07-0319

PREAI

Suppressed Bone Turnover in Obesity: A Link to Energy Metabolism? A Case-Control Study

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2014-06-0160

OAAI

Testicular Failure and Male Infertility in the Monogenic Mulibrey Nanism Disorder

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM