S.Helena Kuivaniemi: search on Z-Library

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1

Abdominal aortic aneurysms

Sakalihasan, Natzi, Michel, Jean-Baptiste, Katsargyris, Athanasios, Kuivaniemi, Helena, Defraigne, Jean-Olivier, Nchimi, Alain, Powell, Janet T., Yoshimura, Koichi, Hultgren, Rebecka

Journal:

Nature Reviews Disease Primers

Year:

2018

Language:

english

File:

PDF, 7.97 MB

english, 2018

2

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases

Kuivaniemi, Helena, Tromp, Gerard

Journal:

Year:

2019

Language:

english

File:

PDF, 16.09 MB

english, 2019

3

Novel Genetic Mechanisms for Aortic Aneurysms

Gerard Tromp, Helena Kuivaniemi, Irene Hinterseher, David J. Carey

Journal:

Current Atherosclerosis Reports

Year:

2010

Language:

english

File:

PDF, 261 KB

english, 2010

4

Familial intracranial aneurysms

Antti Ronkainen, Juha Hernesniemi, Matti Puranen, Lea Niemitukia, Ritva Vanninen, Markku Ryynänen, Helena Kuivaniemi, Gerard Tromp

Journal:

Year:

1997

Language:

english

File:

PDF, 625 KB

english, 1997

5

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk LociNovelty and Significance

Jones, Gregory T., Tromp, Gerard, Kuivaniemi, Helena, Gretarsdottir, Solveig, Baas, Annette F., Giusti, Betti, Strauss, Ewa, van‘t Hof, Femke N.G., Webb, Thomas R., Erdman, Robert, Ritchie, Marylyn D.

Journal:

Circulation Research

Year:

2017

Language:

english

File:

PDF, 4.00 MB

english, 2017

6

A review of genome-wide transcriptomics studies in Parkinson's disease

Borrageiro, Genevie, Haylett, William, Seedat, Soraya, Kuivaniemi, Helena, Bardien, Soraya

Journal:

European Journal of Neuroscience

Year:

2017

Language:

english

File:

PDF, 4.94 MB

english, 2017

7

Parkinson's disease in Nigeria: A review of published studies and recommendations for future research

Oluwole, Oluwafemi G., Kuivaniemi, Helena, Carr, Jonathan A., Ross, Owen A., Olaogun, Matthew O.B., Bardien, Soraya, Komolafe, Morenikeji A.

Journal:

Parkinsonism & Related Disorders

Year:

2018

Language:

english

File:

PDF, 570 KB

english, 2018

8

Substitution of arginine for glycine at position 154 of the α1 chain of type I collagen in a variant of osteogenesis imperfecta: Comparison to previous cases with the same mutation

Zhuang, Jiapiao, Tromp, Gerard, Kuivaniemi, Helena, Castells, Salvador, Prockop, Darwin J.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 705 KB

1996

9

Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta

Jiapiao Zhuang, Gerard Tromp, Helena Kuivaniemi, Salvador Castells, Merete Bugge, Darwin J. Prockop

Journal:

Year:

1996

Language:

english

File:

PDF, 1004 KB

english, 1996

10

A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV

David W. Anderson, Smita Thakker-Varia, Gerard Tromp, Helena Kuivaniemi, Catherine A. Stolle

Journal:

Year:

1997

Language:

english

File:

PDF, 71 KB

english, 1997

11

Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent

Jarmo Körkkö, Helena Kuivaniemi, Petteri Paassilta, Jiapiao Zhuang, Gerard Tromp, Anne DePaepe, Darwin J. Prockop, Leena Ala-Kokko

Journal:

Year:

1997

Language:

english

File:

PDF, 239 KB

english, 1997

12

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

Helena Kuivaniemi, Gerard Tromp, Darwin J. Prockop

Journal:

Year:

1997

Language:

english

File:

PDF, 218 KB

english, 1997

13

Type I procollagen: The gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue

Dr. Darwin J. Prockop, Constantinos D. Constantinou, Kenneth E. Dombrowski, Yoshio Hojima, Karl E. Kadler, Helena Kuivaniemi, Gerard Tromp, Bruce E. Vogel

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 856 KB

english, 1989

14

Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers–Danlos syndrome type IV

Paolo Narcisi, Yuli Wu, Gerard Tromp, James J Earley, Allan J. Richards, F. Michael Pope, Helena Kuivaniemi

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 638 KB

english, 1993

15

A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T → C in African- and European-Americans

Cyrus P. Zabetian, Roberto Romero, David Robertson, Surendra Sharma, James F. Padbury, Helena Kuivaniemi, Kwang-Soo Kim, Chun-Hyung Kim, Michael D. Köhnke, Henry R. Kranzler, Joel Gelernter, Joseph F.

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 51 KB

english, 2003

16

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function

Jayne S. Weiss, Howard S. Kruth, Helena Kuivaniemi, Gerard Tromp, Jayaprakash Karkera, Sunil Mahurkar, Walter Lisch, William J Dupps Jr., Peter S. White, R. Scott Winters, Chaesik Kim, Christopher J.

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 520 KB

english, 2008

17

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function

Jayne S. Weiss, Howard S. Kruth, Helena Kuivaniemi, Gerard Tromp, Jayaprakash Karkera, Sunil Mahurkar, Walter Lisch, William J Dupps Jr., Peter S. White, R. Scott Winters, Chaesik Kim, Christopher J.

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 497 KB

english, 2008

18

CARD15 mutations in familial granulomatosis syndromes: A study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy

Xiaoju Wang, Helena Kuivaniemi, Gina Bonavita, Lysette Mutkus, Ulrike Mau, Edward Blau, Naohiro Inohara, Gabriel Nunez, Gerard Tromp, Charlene J. Williams

Journal:

Arthritis & Rheumatism

Year:

2002

Language:

english

File:

PDF, 84 KB

english, 2002

19

Temperature sensitivity of aberrant RNA splicing with a mutation in theG+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers–Danlos syndrome type IV

Yuli Wu, Helena Kuivaniemi, Gerard Tromp, Deike Strobel, Anne M. Romanic, Darwin J. Prockop

Journal:

Year:

1993

Language:

english

File:

PDF, 828 KB

english, 1993

20

Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV

Gerard Tromp, Anne De Paepe, Lieve Nuytinck, Swarna Madhatheri, Helena Kuivaniemi

Journal:

Year:

1995

Language:

english

File:

PDF, 234 KB

english, 1995

21

Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV

Smita Thakker-Varia, David W. Anderson, Helena Kuivaniemi, Gerard Tromp, Hyeon-Gyu Shin, Michel van der Rest, Francis H. Glorieux, Leena Ala-kokko, Catherine A. Stolle

Journal:

Year:

1995

Language:

english

File:

PDF, 965 KB

english, 1995

22

Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19

John H Lillvis, Yoshiki Kyo, Gerard Tromp, Guy M Lenk, Ming Li, Qing Lu, Robert P Igo, Natzi Sakalihasan, Robert E Ferrell, Charles M Schworer, Zoran Gatalica, Susan Land, Helena Kuivaniemi

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 4.56 MB

english, 2011

23

Search for intracranial aneurysm susceptibility gene(s) using Finnish families

Jane M Olson, Sompong Vongpunsawad, Helena Kuivaniemi, Antti Ronkainen, Juha Hernesniemi, Markku Ryynänen, Lee-Lian Kim, Gerard Tromp

Journal:

BMC Medical Genetics

Year:

2002

Language:

english

File:

PDF, 288 KB

english, 2002

24

Identification of novel functional sequence variants in the gene for peptidase inhibitor 3

Mahboob A Chowdhury, Helena Kuivaniemi, Roberto Romero, Samuel Edwin, Tinnakorn Chaiworapongsa, Gerard Tromp

Journal:

BMC Medical Genetics

Year:

2006

Language:

english

File:

PDF, 1.21 MB

english, 2006

25

Analytical approaches to detect maternal/fetal genotype incompatibilities that increase risk of pre-eclampsia

Neeta Parimi, Gerard Tromp, Helena Kuivaniemi, Jyh Kae Nien, Ricardo Gomez, Roberto Romero, Katrina AB Goddard

Journal:

BMC Medical Genetics

Year:

2008

Language:

english

File:

PDF, 484 KB

english, 2008

26

Deletion of 19 base pairs in intron 13 of the gene for the proα2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta

Jiapiao Zhuang, Gerard Tromp, Helena Kuivaniemi, Kiyoo Nakayasu, Darwin J. Prockop

Journal:

Year:

1993

Language:

english

File:

PDF, 1.01 MB

english, 1993

27

Fine mapping of the Schnyder’s crystalline corneal dystrophy locus

Veena Theendakara, Gerard Tromp, Helena Kuivaniemi, PeterS. White, Seema Panchal, Jennifer Cox, R.Scott Winters, Petra Riebeling, Frank Tost, Maria Hoeltzenbein, TimoM. Tervo, Wolfram Henn, Elke Denni

Journal:

Year:

2004

Language:

english

File:

PDF, 554 KB

english, 2004

28

Are There Genes for Aneurysms in the Blueprint of the Human Genome?

Helena Kuivaniemi

Journal:

Annals of Vascular Surgery

Year:

2004

Language:

english

File:

PDF, 36 KB

english, 2004

29

Elevated Expression of Matrix Metalloproteinase-13 in Abdominal Aortic Aneurysms

Gerard Tromp, Zoran Gatalica, Magdalena Skunca, Ramon Berguer, Thomas Siegel, Ronald A. Kline, Helena Kuivaniemi

Journal:

Annals of Vascular Surgery

Year:

2004

Language:

english

File:

PDF, 212 KB

english, 2004

30

Highlights of the Recent Literature on Abdominal Aortic Aneurysm Research

Helena Kuivaniemi, Toru Ogata

Journal:

Annals of Vascular Surgery

Year:

2006

Language:

english

File:

PDF, 82 KB

english, 2006

31

Community-Based, Nonprofit Organization-Sponsored Ultrasonography Screening Program for Abdominal Aortic Aneurysms Is Effective at Identifying Occult Aneurysms

Toru Ogata, Sheila Arrington, P. Michael Davis Jr., Albert D. Sam II, Larry H. Hollier, Gerard Tromp, Helena Kuivaniemi

Journal:

Annals of Vascular Surgery

Year:

2006

Language:

english

File:

PDF, 172 KB

english, 2006

32

Evidence of linkage and association on chromosome 20 for late-onset Alzheimer disease

KatrinaA.B. Goddard, JaneM. Olson, Haydeh Payami, Monique van der Voet, Helena Kuivaniemi, Gerard Tromp

Journal:

Year:

2004

Language:

english

File:

PDF, 186 KB

english, 2004

33

Fibulin-2 exhibits high degree of variability, but no structural changes concordant with abdominal aortic aneurysms

Kuivaniemi, Helena, Marshall, Andrew, Ganguly, Arupa, Chu, Mon-Li, Abbott, William M, Tromp, Gerard

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 56 KB

english, 1999

34

Genome-Wide Approach to Finding Abdominal Aortic Aneurysm Susceptibility Genes in Humans

HELENA KUIVANIEMI, YOSHIKI KYO, GUY LENK, GERARD TROMP

Journal:

Annals of the New York Academy of Sciences

Year:

2006

Language:

english

File:

PDF, 197 KB

english, 2006

35

Concluding Remarks

HELENA KUIVANIEMI, GILBERT R. UPCHURCH Jr

Journal:

Annals of the New York Academy of Sciences

Year:

2006

Language:

english

File:

PDF, 81 KB

english, 2006

36

Aneurysm Outreach Inc., a Nonprofit Organization, Offers Community-Based, Ultrasonography Screening for Abdominal Aortic Aneurysms

SHEILA ARRINGTON, TORU OGATA, P. MICHAEL DAVIS Jr, ALBERT D. SAM II, LARRY H. HOLLIER, GERARD TROMP, HELENA KUIVANIEMI

Journal:

Annals of the New York Academy of Sciences

Year:

2006

Language:

english

File:

PDF, 109 KB

english, 2006

37

Global Expression Profiles in Human Normal and Aneurysmal Abdominal Aorta Based on Two Distinct Whole Genome Microarray Platforms

GUY M. LENK, GERARD TROMP, MAGDALENA SKUNCA, ZORAN GATALICA, RAMON BERGUER, HELENA KUIVANIEMI

Journal:

Annals of the New York Academy of Sciences

Year:

2006

Language:

english

File:

PDF, 111 KB

english, 2006

38

Genome-wide expression profiling of fetal membranes reveals deficient expression of proteinase inhibitor 3 in premature rupture of membranes

Gerard Tromp, Helena Kuivaniemi, Tinnakorn Chaiworapongsa, Yeon Mee Kim, Sam Edwin, Roberto Romero

Journal:

American Journal of Obstetrics and Gynecology

Year:

2003

Language:

english

File:

PDF, 52 KB

english, 2003

39

Spontaneous labor at term and histologic chorioamnionitis are characterized by up-regulation of the pattern recognition receptor toll-like receptor-2

Yeon Mee Kim, Gerardus Tromp, S.Helena Kuivaniemi, Jimmy Espinoza, Emmanuel Bujold, Mi Ran Kim, Gi Jin Kim, Roberto Romero

Journal:

American Journal of Obstetrics and Gynecology

Year:

2003

Language:

english

File:

PDF, 44 KB

english, 2003

40

Bacterial vaginosis, the inflammatory response and the risk of preterm birth: a role for genetic epidemiology in the prevention of preterm birth

Roberto Romero, Tinnakorn Chaiworapongsa, Helena Kuivaniemi, Gerard Tromp

Journal:

American Journal of Obstetrics and Gynecology

Year:

2004

Language:

english

File:

PDF, 358 KB

english, 2004

41

Genome-wide expression profiling of fetal membranes reveals a deficient expression of proteinase inhibitor 3 in premature rupture of membranes

Gerard Tromp, Helena Kuivaniemi, Roberto Romero, Tinnakorn Chaiworapongsa, Yeon Mee Kim, Mi Ran Kim, Eli Maymon, Samuel Edwin

Journal:

American Journal of Obstetrics and Gynecology

Year:

2004

Language:

english

File:

PDF, 466 KB

english, 2004

42

Toll-like receptor-2 and -4 in the chorioamniotic membranes in spontaneous labor at term and in preterm parturition that are associated with chorioamnionitis

Yeon Mee Kim, Roberto Romero, Tinnakorn Chaiworapongsa, Gi Jin Kim, Mi Ran Kim, Helena Kuivaniemi, Gerard Tromp, Jimmy Espinoza, Emmanuel Bujold, Vikki M. Abrahams, Gil Mor

Journal:

American Journal of Obstetrics and Gynecology

Year:

2004

Language:

english

File:

PDF, 1.42 MB

english, 2004

43

Novel functional sequence variants in the promoter of a gene downregulated in preterm prom: A possible genetic basis for the predisposition to membrane rupture?

Mahboob Chowdhury, Gerard Tromp, Helena Kuivaniemi, Sam Edwin, Roberto Romero

Journal:

American Journal of Obstetrics and Gynecology

Year:

2004

Language:

english

File:

PDF, 52 KB

english, 2004

44

Evidence for the participation of bone morphogenetic protein-2 in normal spontaneous labor at term

Gi Jin Kim, Helena Kuivaniemi, Gerard Tromp, Yeon Mee Kim, Mi Ran Kim, Joon-seok Hong, Bo Hyun Yoon, Chong Jai Kim, Moshe Mazor, Roberto Romero

Journal:

American Journal of Obstetrics and Gynecology

Year:

2004

Language:

english

File:

PDF, 58 KB

english, 2004

45

Spontaneous labor at term is characterized by a genomic signature of acute inflammation in the chorioamniotic membranes but not in the systemic circulation

Ramsi Haddad, Gerard Tromp, Helena Kuivaniemi, Tinnakorn Chaiworapongsa, Yeon Mee Kim, Roberto Romero

Journal:

American Journal of Obstetrics and Gynecology

Year:

2004

Language:

english

File:

PDF, 66 KB

english, 2004

46

Expression of bone morphogenetic protein 2 in normal spontaneous labor at term, preterm labor, and preterm premature rupture of membranes

Gi Jin Kim, Roberto Romero, Helena Kuivaniemi, Gerard Tromp, Ramsi Haddad, Yeon Mee Kim, Mi Ran Kim, Jyh Kae Nien, Joon-Seok Hong, Jimmy Espinoza, Joaquin Santolaya, Bo Hyun Yoon, Moshe Mazor, Chong J

Journal:

American Journal of Obstetrics and Gynecology

Year:

2005

Language:

english

File:

PDF, 339 KB

english, 2005

47

Human spontaneous labor without histologic chorioamnionitis is characterized by an acute inflammation gene expression signature

Ramsi Haddad, Gerard Tromp, Helena Kuivaniemi, Tinnakorn Chaiworapongsa, Yeon Mee Kim, Moshe Mazor, Roberto Romero

Journal:

American Journal of Obstetrics and Gynecology

Year:

2006

Language:

english

File:

PDF, 709 KB

english, 2006

48

Genetic predisposition for preterm PROM: Results of a large candidate-gene association study of mothers and their offspring

Lara Friel (F), Helena Kuivaniemi, Ricardo Gomez, Katrina Goddard, Jyh Kae Nien, Gerard Tromp, Qing Lu, Zhiying Xu, Ernesto Behnke, Margarita Solari, Jimmy Espinoza, Chong Jai Kim, Tinnakorn Chaiworap

Journal:

American Journal of Obstetrics and Gynecology

Year:

2005

Language:

english

File:

PDF, 119 KB

english, 2005

49

Gene expression profile of an adenomyoepithelioma of the breast with a reciprocal translocation involving chromosomes 8 and 16

Zoran Gatalica, Gopalrao Velagaleti, Helena Kuivaniemi, Gerard Tromp, Juan Palazzo, Kerry M. Graves, Michelle Guigneaux, Thomas Wood, Mala Sinha, Bruce Luxon

Journal:

Cancer Genetics and Cytogenetics

Year:

2005

Language:

english

File:

PDF, 512 KB

english, 2005

50

A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica

Sheila P. Meftah, Helena Kuivaniemi, Gerard Tromp, Abdelhamid Kerkeni, Mohammed Tahar Sfar, Abdelkerim Ayadi, Ananda S. Prasad

Journal:

Year:

2006

Language:

english

File:

PDF, 412 KB

english, 2006