共 97 条
[31]
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
[J].
Digilio, MC
;
Conti, E
;
Sarkozy, A
;
Mingarelli, R
;
Dottorini, T
;
Marino, B
;
Pizzuti, A
;
Dallapiccola, B
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2002, 71 (02)
:389-394

Digilio, MC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Roma La Sapienza, Ist CSS Mendel, I-00198 Rome, Italy

Conti, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Roma La Sapienza, Ist CSS Mendel, I-00198 Rome, Italy

Sarkozy, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Roma La Sapienza, Ist CSS Mendel, I-00198 Rome, Italy

Mingarelli, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Roma La Sapienza, Ist CSS Mendel, I-00198 Rome, Italy

Dottorini, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Roma La Sapienza, Ist CSS Mendel, I-00198 Rome, Italy

Marino, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Roma La Sapienza, Ist CSS Mendel, I-00198 Rome, Italy

Pizzuti, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Roma La Sapienza, Ist CSS Mendel, I-00198 Rome, Italy

Dallapiccola, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Roma La Sapienza, Ist CSS Mendel, I-00198 Rome, Italy
[32]
Mutation in NRAS in familial Noonan syndrome - case report and review of the literature
[J].
Ekvall, Sara
;
Wilbe, Maria
;
Dahlgren, Jovanna
;
Legius, Eric
;
van Haeringen, Arie
;
Westphal, Otto
;
Anneren, Goran
;
Bondeson, Marie-Louise
.
BMC MEDICAL GENETICS,
2015, 16

Ekvall, Sara
论文数: 0 引用数: 0
h-index: 0
机构:
Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden

Wilbe, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden

Dahlgren, Jovanna
论文数: 0 引用数: 0
h-index: 0
机构:
Gothenburg Univ, Sahlgrenska Acad, Dept Paediat, Gothenburg, Sweden Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden

Legius, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden

van Haeringen, Arie
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden

Westphal, Otto
论文数: 0 引用数: 0
h-index: 0
机构:
Gothenburg Univ, Sahlgrenska Acad, Dept Paediat, Gothenburg, Sweden Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden

Anneren, Goran
论文数: 0 引用数: 0
h-index: 0
机构:
Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden

Bondeson, Marie-Louise
论文数: 0 引用数: 0
h-index: 0
机构:
Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden
[33]
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
[J].
Flex, Elisabetta
;
Jaiswal, Mamta
;
Pantaleoni, Francesca
;
Martinelli, Simone
;
Strullu, Marion
;
Fansa, Eyad K.
;
Caye, Aurelie
;
De Luca, Alessandro
;
Lepri, Francesca
;
Dvorsky, Radovan
;
Pannone, Luca
;
Paolacci, Stefano
;
Zhang, Si-Cai
;
Fodale, Valentina
;
Bocchinfuso, Gianfranco
;
Rossi, Cesare
;
Burkitt-Wright, Emma M. M.
;
Farrotti, Andrea
;
Stellacci, Emilia
;
Cecchetti, Serena
;
Ferese, Rosangela
;
Bottero, Lisabianca
;
Castro, Silvana
;
Fenneteau, Odile
;
Brethon, Benoit
;
Sanchez, Massimo
;
Roberts, Amy E.
;
Yntema, Helger G.
;
Van der Burgt, Ineke
;
Cianci, Paola
;
Bondeson, Marie-Louise
;
Digilio, Maria Cristina
;
Zampino, Giuseppe
;
Kerr, Bronwyn
;
Aoki, Yoko
;
Loh, Mignon L.
;
Palleschi, Antonio
;
Di Schiavi, Elia
;
Care, Alessandra
;
Selicorni, Angelo
;
Dallapiccola, Bruno
;
Cirstea, Ion C.
;
Stella, Lorenzo
;
Zenker, Martin
;
Gelb, Bruce D.
;
Cave, Helene
;
Ahmadian, Mohammad R.
;
Tartaglia, Marco
.
HUMAN MOLECULAR GENETICS,
2014, 23 (16)
:4315-4327

Flex, Elisabetta
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Jaiswal, Mamta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dusseldorf, Fak Med, Inst Biochem & Mol Biol, D-40225 Dusseldorf, Germany Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Pantaleoni, Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Martinelli, Simone
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Strullu, Marion
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, Dept Genet, F-75019 Paris, France
Univ Paris Diderot, Sorbonne Paris Cite, IUH, INSERM UMR S940, F-75010 Paris, France Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Fansa, Eyad K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dusseldorf, Fak Med, Inst Biochem & Mol Biol, D-40225 Dusseldorf, Germany Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Caye, Aurelie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, Dept Genet, F-75019 Paris, France
Univ Paris Diderot, Sorbonne Paris Cite, IUH, INSERM UMR S940, F-75010 Paris, France Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

De Luca, Alessandro
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ricovero & Cura Carattere Sci Casa Sollievo D, Lab Mendel, I-00198 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Lepri, Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Pediat Bambino Gesu, I-00133 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Dvorsky, Radovan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dusseldorf, Fak Med, Inst Biochem & Mol Biol, D-40225 Dusseldorf, Germany Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Pannone, Luca
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Paolacci, Stefano
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Zhang, Si-Cai
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dusseldorf, Fak Med, Inst Biochem & Mol Biol, D-40225 Dusseldorf, Germany Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Fodale, Valentina
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Bocchinfuso, Gianfranco
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma Tor Vergata, Dipartimento Sci Tecnol Chim, I-00133 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Rossi, Cesare
论文数: 0 引用数: 0
h-index: 0
机构:
St Orsola Marcello Malpighi Hosp, UO Genet Med, I-40138 Bologna, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Burkitt-Wright, Emma M. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Cent Manchester Univ Hosp NHS Fdn Trust, Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Farrotti, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma Tor Vergata, Dipartimento Sci Tecnol Chim, I-00133 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Stellacci, Emilia
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Cecchetti, Serena
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Biol Cellulare Neurosci, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Ferese, Rosangela
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ricovero & Cura Carattere Sci Casa Sollievo D, Lab Mendel, I-00198 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Bottero, Lisabianca
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Castro, Silvana
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Genet & Biofis A Buzzati Traverso, Consiglio Nazl Delle Ricerche, I-80131 Naples, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Fenneteau, Odile
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, Biol Hematol Dept, F-75019 Paris, France Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Brethon, Benoit
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, Dept Pediat Hematol, F-75019 Paris, France Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Sanchez, Massimo
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Biol Cellulare Neurosci, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Roberts, Amy E.
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Dept Cardiol, Boston, MA 02115 USA
Boston Childrens Hosp, Div Genet, Boston, MA 02115 USA
Boston Childrens Hosp, Dept Med, Boston, MA 02115 USA Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Yntema, Helger G.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Radboud Univ Med Ctr, Dept Human Genet, NL-6500 Nijmegen, Netherlands
Radboud Univ Nijmegen, Nijmegen Ctr Mol Life Sci, NL-6500 Nijmegen, Netherlands Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Van der Burgt, Ineke
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Radboud Univ Med Ctr, Dept Human Genet, NL-6500 Nijmegen, Netherlands
Radboud Univ Nijmegen, Nijmegen Ctr Mol Life Sci, NL-6500 Nijmegen, Netherlands Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

论文数: 引用数:
h-index:
机构:

Bondeson, Marie-Louise
论文数: 0 引用数: 0
h-index: 0
机构:
Uppsala Univ, Dept Immunol Genet & Pathol, S-75237 Uppsala, Sweden Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Digilio, Maria Cristina
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Pediat Bambino Gesu, I-00133 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Zampino, Giuseppe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica Sacro Cuore, Ist Clin Pediat, I-00168 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Kerr, Bronwyn
论文数: 0 引用数: 0
h-index: 0
机构:
Cent Manchester Univ Hosp NHS Fdn Trust, Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Aoki, Yoko
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Loh, Mignon L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Sch Med, Dept Pediat, Benioff Childrens Hosp, San Francisco, CA 94143 USA
Helen Diller Family Comprehens Canc Ctr, San Francisco, CA 94143 USA Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Palleschi, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma Tor Vergata, Dipartimento Sci Tecnol Chim, I-00133 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Di Schiavi, Elia
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Genet & Biofis A Buzzati Traverso, Consiglio Nazl Delle Ricerche, I-80131 Naples, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Care, Alessandra
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Selicorni, Angelo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milano Bicocca, Clin Pediat, Genet Clin Pediat, Fondaz MBBM AOS Gerardo, I-20900 Monza, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Dallapiccola, Bruno
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Pediat Bambino Gesu, I-00133 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Cirstea, Ion C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dusseldorf, Fak Med, Inst Biochem & Mol Biol, D-40225 Dusseldorf, Germany
Leibniz Inst Age Res, D-07745 Jena, Germany Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Stella, Lorenzo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma Tor Vergata, Dipartimento Sci Tecnol Chim, I-00133 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Zenker, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Otto Von Guericke Univ, Univ Hosp Magdeburg, Inst Human Genet, D-39120 Magdeburg, Germany Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Gelb, Bruce D.
论文数: 0 引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Dept Pediat, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Dept Genet, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Dept Genom Sci, New York, NY 10029 USA Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Cave, Helene
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, Dept Genet, F-75019 Paris, France
Univ Paris Diderot, Sorbonne Paris Cite, IUH, INSERM UMR S940, F-75010 Paris, France Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Ahmadian, Mohammad R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dusseldorf, Fak Med, Inst Biochem & Mol Biol, D-40225 Dusseldorf, Germany Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy

Tartaglia, Marco
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy
[34]
Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation
[J].
Fujimoto, Naoki
;
Nakajima, Hiroshi
;
Sugiura, Emiyo
;
Dohi, Kaoru
;
Kanemitsu, Shinji
;
Yamada, Norikazu
;
Aoki, Yoko
;
Nakatani, Kaname
;
Shimpo, Hideto
;
Nobori, Tsutomu
;
Ito, Masaaki
.
INTERNATIONAL JOURNAL OF CARDIOLOGY,
2014, 173 (03)
:E63-E66

Fujimoto, Naoki
论文数: 0 引用数: 0
h-index: 0
机构:
Mie Univ, Grad Sch Med, Dept Mol & Lab Med, Tsu, Mie 5148507, Japan Mie Univ, Grad Sch Med, Dept Mol & Lab Med, Tsu, Mie 5148507, Japan

Nakajima, Hiroshi
论文数: 0 引用数: 0
h-index: 0
机构:
Mie Univ, Grad Sch Med, Dept Cardiol & Nephrol, Tsu, Mie 5148507, Japan Mie Univ, Grad Sch Med, Dept Mol & Lab Med, Tsu, Mie 5148507, Japan

Sugiura, Emiyo
论文数: 0 引用数: 0
h-index: 0
机构:
Mie Univ, Grad Sch Med, Dept Cardiol & Nephrol, Tsu, Mie 5148507, Japan Mie Univ, Grad Sch Med, Dept Mol & Lab Med, Tsu, Mie 5148507, Japan

Dohi, Kaoru
论文数: 0 引用数: 0
h-index: 0
机构:
Mie Univ, Grad Sch Med, Dept Cardiol & Nephrol, Tsu, Mie 5148507, Japan Mie Univ, Grad Sch Med, Dept Mol & Lab Med, Tsu, Mie 5148507, Japan

Kanemitsu, Shinji
论文数: 0 引用数: 0
h-index: 0
机构:
Mie Univ, Grad Sch Med, Dept Thorac & Cardiovasc Surg, Tsu, Mie 5148507, Japan Mie Univ, Grad Sch Med, Dept Mol & Lab Med, Tsu, Mie 5148507, Japan

Yamada, Norikazu
论文数: 0 引用数: 0
h-index: 0
机构:
Mie Univ, Grad Sch Med, Dept Cardiol & Nephrol, Tsu, Mie 5148507, Japan Mie Univ, Grad Sch Med, Dept Mol & Lab Med, Tsu, Mie 5148507, Japan

Aoki, Yoko
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 980, Japan Mie Univ, Grad Sch Med, Dept Mol & Lab Med, Tsu, Mie 5148507, Japan

论文数: 引用数:
h-index:
机构:

Shimpo, Hideto
论文数: 0 引用数: 0
h-index: 0
机构:
Mie Univ, Grad Sch Med, Dept Thorac & Cardiovasc Surg, Tsu, Mie 5148507, Japan Mie Univ, Grad Sch Med, Dept Mol & Lab Med, Tsu, Mie 5148507, Japan

Nobori, Tsutomu
论文数: 0 引用数: 0
h-index: 0
机构:
Mie Univ, Grad Sch Med, Dept Mol & Lab Med, Tsu, Mie 5148507, Japan Mie Univ, Grad Sch Med, Dept Mol & Lab Med, Tsu, Mie 5148507, Japan

Ito, Masaaki
论文数: 0 引用数: 0
h-index: 0
机构:
Mie Univ, Grad Sch Med, Dept Cardiol & Nephrol, Tsu, Mie 5148507, Japan Mie Univ, Grad Sch Med, Dept Mol & Lab Med, Tsu, Mie 5148507, Japan
[35]
Cardiomyopathies in Noonan syndrome and the other RASopathies
[J].
Gelb, Bruce D.
;
Roberts, Amy E.
;
Tartaglia, Marco
.
PROGRESS IN PEDIATRIC CARDIOLOGY,
2015, 39 (01)
:13-19

Gelb, Bruce D.
论文数: 0 引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Dept Pediat, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Dept Pediat, New York, NY 10029 USA

Roberts, Amy E.
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Dept Cardiol, Boston, MA USA
Boston Childrens Hosp, Div Genet, Boston, MA USA Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Dept Pediat, New York, NY 10029 USA

Tartaglia, Marco
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, Rome, Italy Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Dept Pediat, New York, NY 10029 USA
[36]
Complex Genetics and the Etiology of Human Congenital Heart Disease
[J].
Gelb, Bruce D.
;
Chung, Wendy K.
.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE,
2014, 4 (07)

Gelb, Bruce D.
论文数: 0 引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Dept Pediat, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA

Chung, Wendy K.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Med Ctr, Dept Pediat, New York, NY 10032 USA
Columbia Univ, Med Ctr, Dept Med, New York, NY 10032 USA Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA
[37]
Contribution of RIT1 Mutations to the Pathogenesis of Noonan Syndrome: Four New Cases and Further Evidence of Heterogeneity
[J].
Gos, Monika
;
Fahiminiya, Somayyeh
;
Poznanski, Jaroslaw
;
Klapecki, Jakub
;
Obersztyn, Ewa
;
Piotrowicz, Malgorzata
;
Wierzba, Jolanta
;
Posmyk, Renata
;
Bal, Jerzy
;
Majewski, Jacek
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2014, 164 (09)
:2310-2316

Gos, Monika
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland

Fahiminiya, Somayyeh
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Ctr Human Genet, Montreal, PQ, Canada
Genome Quebec Innovat Ctr, Montreal, PQ, Canada Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland

Poznanski, Jaroslaw
论文数: 0 引用数: 0
h-index: 0
机构:
Polish Acad Sci, Inst Biochem & Biophys, Dept Biophys, Warsaw, Poland Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland

Klapecki, Jakub
论文数: 0 引用数: 0
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机构:
Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland

Obersztyn, Ewa
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机构:
Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland

Piotrowicz, Malgorzata
论文数: 0 引用数: 0
h-index: 0
机构:
Polish Mothers Mem Hosp, Res Inst, Dept Genet, Lodz, Poland Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland

论文数: 引用数:
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Posmyk, Renata
论文数: 0 引用数: 0
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机构:
Clin Genet Ctr, NZOZ Genet, Bialystok, Poland Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland

Bal, Jerzy
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland

Majewski, Jacek
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Ctr Human Genet, Montreal, PQ, Canada
Genome Quebec Innovat Ctr, Montreal, PQ, Canada Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland
[38]
A Novel Rasopathy Caused by Recurrent De Novo Missense Mutations in PPP1CB Closely Resembles Noonan Syndrome with Loose Anagen Hair
[J].
Gripp, Karen W.
;
Aldinger, Kimberly A.
;
Bennett, James T.
;
Baker, Laura
;
Tusi, Jessica
;
Powell-Hamilton, Nina
;
Stabley, Deborah
;
Sol-Church, Katia
;
Timms, Andrew E.
;
Dobyns, William B.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2016, 170 (09)
:2237-2247

Gripp, Karen W.
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA

Aldinger, Kimberly A.
论文数: 0 引用数: 0
h-index: 0
机构:
Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA

Bennett, James T.
论文数: 0 引用数: 0
h-index: 0
机构:
Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA

Baker, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA

Tusi, Jessica
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA

Powell-Hamilton, Nina
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA

Stabley, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred I DuPont Hosp Children, Ctr Appl Clin Genom, Wilmington, DE USA Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA

Sol-Church, Katia
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred I DuPont Hosp Children, Ctr Appl Clin Genom, Wilmington, DE USA Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA

Timms, Andrew E.
论文数: 0 引用数: 0
h-index: 0
机构:
Seattle Childrens Res Inst, Ctr Dev Biol & Regenerat Med, Seattle, WA USA Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA

Dobyns, William B.
论文数: 0 引用数: 0
h-index: 0
机构:
Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Alfred I DuPont Hosp Children, Div Med Genet, 1600 Rockland Rd, Wilmington, DE 19803 USA
[39]
Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome With Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis
[J].
Gripp, Karen W.
;
Zand, Dina J.
;
Demmer, Laurie
;
Anderson, Carol E.
;
Dobyns, William B.
;
Zackai, Elaine H.
;
Denenberg, Elizabeth
;
Jenny, Kim
;
Stabley, Deborah L.
;
Sol-Church, Katia
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2013, 161 (10)
:2420-2430

Gripp, Karen W.
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA

Zand, Dina J.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Natl Med Ctr, Div Genet & Metab, Washington, DC 20010 USA Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA

Demmer, Laurie
论文数: 0 引用数: 0
h-index: 0
机构:
Levine Childrens Hosp, Div Clin Genet, Charlotte, NC USA Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA

Anderson, Carol E.
论文数: 0 引用数: 0
h-index: 0
机构:
St Christophers Hosp Children, Clin Genet Sect, Philadelphia, PA 19133 USA Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA

Dobyns, William B.
论文数: 0 引用数: 0
h-index: 0
机构:
Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA

Zackai, Elaine H.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA

Denenberg, Elizabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA

Jenny, Kim
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA

Stabley, Deborah L.
论文数: 0 引用数: 0
h-index: 0
机构:
Nemours Childrens Clin, Dept Biomed Res, Wilmington, DE USA Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA

Sol-Church, Katia
论文数: 0 引用数: 0
h-index: 0
机构:
Nemours Childrens Clin, Dept Biomed Res, Wilmington, DE USA Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA
[40]
Rapidly Progressive Hypertrophic Cardiomyopathy in an Infant with Noonan Syndrome with Multiple Lentigines: Palliative Treatment with a Rapamycin Analog
[J].
Hahn, Andreas
;
Lauriol, Jessica
;
Thul, Josef
;
Behnke-Hall, Kachina
;
Logeswaran, Tushiha
;
Schaenzer, Anne
;
Boeguercue, Nuray
;
Garvalov, Boyan K.
;
Zenker, Martin
;
Gelb, Bruce D.
;
von Gerlach, Susanne
;
Kandolf, Reinhard
;
Kontaridis, Maria I.
;
Schranz, Dietmar
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2015, 167 (04)
:744-751

Hahn, Andreas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

Lauriol, Jessica
论文数: 0 引用数: 0
h-index: 0
机构:
Beth Israel Deaconess Med Ctr, Dept Med, Div Cardiol, Boston, MA 02215 USA Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

Thul, Josef
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Giessen, Univ Hosp, Pediat Heart Ctr, D-35390 Giessen, Germany Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

Behnke-Hall, Kachina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Giessen, Univ Hosp, Pediat Heart Ctr, D-35390 Giessen, Germany Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

Logeswaran, Tushiha
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Giessen, Univ Hosp, Pediat Heart Ctr, D-35390 Giessen, Germany Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

Schaenzer, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Giessen, Univ Hosp, Inst Neuropathol, D-35390 Giessen, Germany Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

Boeguercue, Nuray
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Giessen, Univ Hosp, Inst Neuropathol, D-35390 Giessen, Germany Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

Garvalov, Boyan K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Giessen, Univ Hosp, Inst Neuropathol, D-35390 Giessen, Germany Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

Zenker, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Otto von Guericke Univ, Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

Gelb, Bruce D.
论文数: 0 引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Dept Pediat, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

von Gerlach, Susanne
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pathol & Cytol, Wettenberg, Germany
Univ Giessen, Inst Pathol, Univ Hosp, D-35390 Giessen, Germany Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

Kandolf, Reinhard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Dept Mol Pathol, Inst Pathol & Neuropathol, Univ Hosp, Tubingen, Germany Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

Kontaridis, Maria I.
论文数: 0 引用数: 0
h-index: 0
机构:
Beth Israel Deaconess Med Ctr, Dept Med, Div Cardiol, Boston, MA 02215 USA
Harvard Univ, Sch Med, Dept Biol Chem & Mol Pharmacol, Boston, MA 02115 USA Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany

Schranz, Dietmar
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Giessen, Univ Hosp, Pediat Heart Ctr, D-35390 Giessen, Germany Univ Giessen, Univ Hosp Giessen, Dept Child Neurol, D-35390 Giessen, Germany