共 5 条
[1]
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
[J].
Keppler-Noreuil, Kim M.
;
Sapp, Julie C.
;
Lindhurst, Marjorie J.
;
Parker, Victoria E. R.
;
Blumhorst, Cathy
;
Darling, Thomas
;
Tosi, Laura L.
;
Huson, Susan M.
;
Whitehouse, Richard W.
;
Jakkula, Eveliina
;
Grant, Ian
;
Balasubramanian, Meena
;
Chandler, Kate E.
;
Fraser, Jamie L.
;
Gucev, Zoran
;
Crow, Yanick J.
;
Brennan, Leslie Manace
;
Clark, Robin
;
Sellars, Elizabeth A.
;
Pena, Loren D. M.
;
Krishnamurty, Vidya
;
Shuen, Andrew
;
Braverman, Nancy
;
Cunningham, Michael L.
;
Sutton, V. Reid
;
Tasic, Velibor
;
Graham, John M., Jr.
;
Geer, Joseph, Jr.
;
Henderson, Alex
;
Semple, Robert K.
;
Biesecker, Leslie G.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2014, 164 (07)
:1713-1733

Keppler-Noreuil, Kim M.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Sapp, Julie C.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Lindhurst, Marjorie J.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Parker, Victoria E. R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Metab Res Labs, Inst Metab Sci, Cambridge, England NHGRI, NIH, Bethesda, MD 20892 USA

Blumhorst, Cathy
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Darling, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Uniformed Serv Univ Hlth Sci, Dept Dermatol, Bethesda, MD 20814 USA NHGRI, NIH, Bethesda, MD 20892 USA

Tosi, Laura L.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Natl Med Ctr, Div Orthopaed Surg & Sports Med, Washington, DC 20010 USA NHGRI, NIH, Bethesda, MD 20892 USA

Huson, Susan M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Cent Manchester Univ Hosp NHS Fdn Trust, Inst Human Dev,Fac Med & Human Sci, Manchester Ctr Genom Med,MAHSC, Manchester, Lancs, England NHGRI, NIH, Bethesda, MD 20892 USA

Whitehouse, Richard W.
论文数: 0 引用数: 0
h-index: 0
机构:
Manchester Royal Infirm, Cent Manchester Univ Hosp NHS Fdn Trust, Dept Radiol, Manchester M13 9WL, Lancs, England NHGRI, NIH, Bethesda, MD 20892 USA

Jakkula, Eveliina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki, Finland NHGRI, NIH, Bethesda, MD 20892 USA

Grant, Ian
论文数: 0 引用数: 0
h-index: 0
机构:
Cambridge Univ Hosp NHS Trust, Dept Plast Surg, Cambridge, England NHGRI, NIH, Bethesda, MD 20892 USA

Balasubramanian, Meena
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England NHGRI, NIH, Bethesda, MD 20892 USA

Chandler, Kate E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Cent Manchester Univ Hosp NHS Fdn Trust, Inst Human Dev,Fac Med & Human Sci, Manchester Ctr Genom Med,MAHSC, Manchester, Lancs, England NHGRI, NIH, Bethesda, MD 20892 USA

Fraser, Jamie L.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Gucev, Zoran
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Skopje, Dept Endocrinol & Genet, Skopje, North Macedonia NHGRI, NIH, Bethesda, MD 20892 USA

Crow, Yanick J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Cent Manchester Univ Hosp NHS Fdn Trust, Inst Human Dev,Fac Med & Human Sci, Manchester Ctr Genom Med,MAHSC, Manchester, Lancs, England NHGRI, NIH, Bethesda, MD 20892 USA

Brennan, Leslie Manace
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Kaiser Permanente Oakland, San Francisco, CA 94143 USA NHGRI, NIH, Bethesda, MD 20892 USA

Clark, Robin
论文数: 0 引用数: 0
h-index: 0
机构:
Loma Linda Univ, Dept Pediat, Med Ctr, Div Med Genet, Loma Linda, CA 92350 USA NHGRI, NIH, Bethesda, MD 20892 USA

Sellars, Elizabeth A.
论文数: 0 引用数: 0
h-index: 0
机构:
Arkansas Childrens Hosp, Sect Genet & Metab, Little Rock, AR 72202 USA NHGRI, NIH, Bethesda, MD 20892 USA

Pena, Loren D. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Dept Pediat, Div Genet, Durham, NC 27710 USA NHGRI, NIH, Bethesda, MD 20892 USA

Krishnamurty, Vidya
论文数: 0 引用数: 0
h-index: 0
机构:
Pediat Clin, Alpharetta, GA USA
Genet Clin, Alpharetta, GA USA NHGRI, NIH, Bethesda, MD 20892 USA

论文数: 引用数:
h-index:
机构:

Braverman, Nancy
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal Childrens Hosp, Res Inst, Dept Human Genet & Pediat, Montreal, PQ H3H 1P3, Canada NHGRI, NIH, Bethesda, MD 20892 USA

Cunningham, Michael L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Div Craniofacial Med, Seattle, WA USA NHGRI, NIH, Bethesda, MD 20892 USA

Sutton, V. Reid
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA NHGRI, NIH, Bethesda, MD 20892 USA

Tasic, Velibor
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Sch Med, Skopje, North Macedonia NHGRI, NIH, Bethesda, MD 20892 USA

Graham, John M., Jr.
论文数: 0 引用数: 0
h-index: 0
机构:
Harbor UCLA Med Ctr, Dept Pediat, Los Angeles, CA USA NHGRI, NIH, Bethesda, MD 20892 USA

Geer, Joseph, Jr.
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, Greenwood, SC 29646 USA NHGRI, NIH, Bethesda, MD 20892 USA

Henderson, Alex
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Upon Tyne Hosp, Northern Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England NHGRI, NIH, Bethesda, MD 20892 USA

Semple, Robert K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Metab Res Labs, Inst Metab Sci, Cambridge, England NHGRI, NIH, Bethesda, MD 20892 USA

Biesecker, Leslie G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA
[2]
Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseases
[J].
Kinsler, V. A.
;
Boccara, O.
;
Fraitag, S.
;
Torrelo, A.
;
Vabres, P.
;
Diociaiuti, A.
.
BRITISH JOURNAL OF DERMATOLOGY,
2020, 182 (03)
:552-563

Kinsler, V. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Paediat Dermatol, London, England
UCL Inst Child Hlth, Genet & Genom Med, London, England Great Ormond St Hosp Sick Children, Paediat Dermatol, London, England

论文数: 引用数:
h-index:
机构:

Fraitag, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Necker Enfants Malades, AP HP, Dept Pathol, Paris, France Great Ormond St Hosp Sick Children, Paediat Dermatol, London, England

Torrelo, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Infantil Nino Jesus, Dept Dermatol, Madrid, Spain Great Ormond St Hosp Sick Children, Paediat Dermatol, London, England

Vabres, P.
论文数: 0 引用数: 0
h-index: 0
机构:
Dijon Univ Hosp, Dept Dermatol, Dijon, France
Dijon Univ Hosp, Reference Ctr Rare Skin Dis, Dijon, France
Univ Bourgogne, GAD, Dijon, France Great Ormond St Hosp Sick Children, Paediat Dermatol, London, England

Diociaiuti, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, Dermatol Unit, Rome, Italy Great Ormond St Hosp Sick Children, Paediat Dermatol, London, England
[3]
Krengel S, J Am Acad Dermatol., V87, P1060
[4]
Central nervous system magnetic resonance imaging abnormalities and neurologic outcomes in pediatric patients with congenital nevi: A 10-year multi-institutional retrospective study
[J].
Neale, Holly
;
Plumptre, Isabella
;
Belazarian, Leah
;
Wiss, Karen
;
Hawryluk, Elena B.
.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY,
2022, 87 (05)
:1060-1068

Neale, Holly
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Massachusetts, Dept Dermatol, Med Sch, Worcester, MA 01605 USA
Massachusetts Gen Hosp, Dept Dermatol, 50 Staniford St, Boston, MA 02114 USA Univ Massachusetts, Dept Dermatol, Med Sch, Worcester, MA 01605 USA

Plumptre, Isabella
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Massachusetts, Dept Dermatol, Med Sch, Worcester, MA 01605 USA Univ Massachusetts, Dept Dermatol, Med Sch, Worcester, MA 01605 USA

Belazarian, Leah
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Massachusetts, Dept Dermatol, Med Sch, Worcester, MA 01605 USA
Univ Massachusetts, Dept Pediat, Med Sch, Worcester, MA 01605 USA Univ Massachusetts, Dept Dermatol, Med Sch, Worcester, MA 01605 USA

Wiss, Karen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Massachusetts, Dept Dermatol, Med Sch, Worcester, MA 01605 USA
Univ Massachusetts, Dept Pediat, Med Sch, Worcester, MA 01605 USA Univ Massachusetts, Dept Dermatol, Med Sch, Worcester, MA 01605 USA

Hawryluk, Elena B.
论文数: 0 引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Dept Dermatol, 50 Staniford St, Boston, MA 02114 USA
Boston Childrens Hosp, Dermatol Program, Dept Allergy & Immunol, Boston, MA USA
Harvard Med Sch, Boston, MA 02115 USA Univ Massachusetts, Dept Dermatol, Med Sch, Worcester, MA 01605 USA
[5]
Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome
[J].
Waelchli, R.
;
Aylett, S. E.
;
Atherton, D.
;
Thompson, D. J.
;
Chong, W. K.
;
Kinsler, V. A.
.
BRITISH JOURNAL OF DERMATOLOGY,
2015, 173 (03)
:739-750

Waelchli, R.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Paed Dermatol, London WC1N 3JH, England Great Ormond St Hosp Sick Children, Paed Dermatol, London WC1N 3JH, England

Aylett, S. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Neurosci, London WC1N 3JH, England
UCL Inst Child Hlth, Neurosci Unit, London, England Great Ormond St Hosp Sick Children, Paed Dermatol, London WC1N 3JH, England

Atherton, D.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Paed Dermatol, London WC1N 3JH, England Great Ormond St Hosp Sick Children, Paed Dermatol, London WC1N 3JH, England

Thompson, D. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Paediat Neurosurg, London WC1N 3JH, England Great Ormond St Hosp Sick Children, Paed Dermatol, London WC1N 3JH, England

Chong, W. K.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Paediat Neuroradiol, London WC1N 3JH, England Great Ormond St Hosp Sick Children, Paed Dermatol, London WC1N 3JH, England

Kinsler, V. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Paed Dermatol, London WC1N 3JH, England
UCL Inst Child Hlth, Genet & Genom Med, London, England Great Ormond St Hosp Sick Children, Paed Dermatol, London WC1N 3JH, England