Papers

Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy

Publish Date: December 03, 2015

Roy A1, Skibo J, Kalume F, Ni J, Rankin S, Lu Y, Dobyns WB, Mills GB, Zhao JJ, Baker SJ, Millen KJ.

eLIFE

Tags: PIK3CA (13),Epilepsy (2),PI3K Inhibitors (2),Animal Models (1)

Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.

Publish Date: September 08, 2015

McDermott JH, Byers H, Clayton-Smith J.

Clin Dysmorphol.

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.

Publish Date: April 27, 2015

Loconte DC, Grossi V, Bozzao C, Forte G, Bagnulo R, Stella A, Lastella P, Cutrone M, Benedicenti F, Susca FC, Patruno M, Varvara D, Germani A, Chessa L, Laforgia N, Tenconi R, Simone C, Resta N.

PLoS One

Tags: PIK3CA (13),PI3K Inhibitors (2)

Diffuse capillary malformation in association with fetal pleural effusion: report of five patients.

Publish Date: Jan-Feb 2015

Rork JF, Alomari AI, Mulliken JB, Fishman SJ, Liang MG.

Pediatr Dermatol.

Tags: Vascular Malformations (5),prenatal (1)

PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.

Publish Date: December 31, 2014

Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG.

Am J Med Genet A.

Tags: PIK3CA (13),Diagnostic Criteria (7),Vascular Malformations (5)

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

Publish Date: June 18, 2014

Döcker D, Schubach M, Menzel M, Spaich C, Gabriel HD, Zenker M, Bartholdi D, Biskup S.

Eur J Hum Genet.

Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations

Publish Date: January 31, 2014

Tapper WJ, Foulds N, Cross NCP, Aranaz P, Score J, et al.

PLoS ONE

Tags: PIK3CA (13),MPPH Syndrome (10),Free Full Text (12)

Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.

Publish Date: Oct 2013

Swarr DT, Khalek N, Treat J, Horton MA, Mirzaa GM, Riviere JB, Dobyns WB, Zackai EH.

Prenat Diagn.

Diffuse capillary malformation with overgrowth: A clinical subtype of vascular anomalies with hypertrophy.

Publish Date: October 01, 2013

Lee MS, Liang MG, Mulliken JB.

J Am Acad Dermatol.

Tags: Differential Diagnosis (2)

PIK3CA-Related Segmental Overgrowth

Publish Date: August 15, 2013

Mirzaa G, Conway R, Graham JM, Dobyns WB.

GeneReviews™ [Internet].

Tags: PIK3CA (13),Free Full Text (12)

Nomenclature in macrocephaly-capillary malformation syndrome.

Publish Date: Aug 2013

Collins C.

Am J Med Genet A.

Tags: Nomenclature (6),Free Full Text (12)

Focal malformations of cortical development: New vistas for molecular pathogenesis.

Publish Date: July 25, 2013

Lim KC, Crino PB.

Neuroscience.

Tags: PIK3CA (13)

Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes

Publish Date: January 10, 2013

Orloff MS1, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C.

Am J Hum Genet.

Tags: PIK3CA (13),Free Full Text (12)

Hydrozephalus im Kindesalter Ursachen und bildmorphologische Darstellung [Hydrocephalus in childhood Causes and imaging patterns]

Publish Date: Sept 2012

Pomschar A, Koerte I, Peraud A, Heinen F, Herber-Jonat S, Reiser M, Ertl-Wagner B.

Radiologe.

Tags: Brain Findings (11)

Le syndrome macrocéphalie – malformation capillaire. Intérêt du diagnostic en période néonatale [Macrocephaly-capillary malformation. A neonatal case.]

Publish Date: August 08, 2012

Coste K, Sarret C, Cisse A, Delabaere A, Francannet C, Vanlieferinghen P.

Arch Pediatr.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Publish Date: June 24, 2012

Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB.

Nat Genet

Tags: PIK3CA (13),genetics (8),Cancer Screening (3),MPPH Syndrome (10),Free Full Text (12)

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

Publish Date: June 24, 2012

Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK.

Nat Genet

Tags: PIK3CA (13),genetics (8)

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome.

Publish Date: June 08, 2012

Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML.

Am J Hum Genet.

Tags: PIK3CA (13),genetics (8)

Discordant monozygotic twins for macrocephaly-capillary malformation.

Publish Date: May 14, 2012

Lederer D, Rack K, Boulanger S, Battisti O, Verellen-Dumoulin C.

Am J Med Genet A.

Macrocephaly-Capillary Malformation Syndrome in a Newborn With Tetralogy of Fallot and Sagittal Sinus Thrombosis.

Publish Date: March 25, 2012

Erener Ercan T, Oztunc F, Celkan T, Bor M, Kizilkilic O, Vural M, Perk Y, Islak C, Tuysuz B.

J Child Neurol.

Tags: Cardiac (6)

Macrocephaly-Capillary Malformation Presenting with Fetal Arrhythmia.

Publish Date: February 13, 2012

Kuint J, Globus O, Ben Simon GJ, Greenberger S.

Pediatr Dermatol.

Tags: Cardiac (6)

Macrocephaly-capillary malformation syndrome: description of a case and review of clinical diagnostic criteria.

Publish Date: Feb 2012

Papetti L, Tarani L, Nicita F, Ruggieri M, Mattiucci C, Mancini F, Ursitti F, Spalice A.

Brain Dev.

Tags: Diagnostic Criteria (7)

Macrocephaly-capillary malformation: a report of four Chinese patients and literature review.

Publish Date: January 16, 2012

Luk HM, Lo IF, Lai CW, Yeung WL, Lam ST.

Clin Dysmorphol.

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

Publish Date: January 06, 2012

Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, Devries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB.

Am J Med Genet A.

Tags: Nomenclature (6),Brain Findings (11),Diagnostic Criteria (7),MPPH Syndrome (10),Free Full Text (12)

Diagnosis and management of extensive vascular malformations of the lower limb Part I. Clinical diagnosis.

Publish Date: Nov 2011

Redondo P, Aguado L, Martínez-Cuesta A.

J Am Acad Dermatol.

Tags: Vascular Malformations (5)

Macrocephaly-capillary malformation syndrome: Three new cases.

Publish Date: October 24, 2011

Panigrahi I, Bhushan M, Yadav M, Khandelwal N, Singhi P.

J Neurol Sci.

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome.

Publish Date: July 27, 2011

Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG.

N Engl J Med.

Tags: Free Full Text (12),Differential Diagnosis (2)

Macrocephaly-capillary malformation syndrome: Description of a case and review of clinical diagnostic criteria.

Publish Date: February 25, 2011

Papetti L, Tarani L, Nicita F, Ruggieri M, Mattiucci C, Mancini F, Ursitti F, Spalice A.

The Japanese Society of Child Neurology

Tags: Brain Findings (11)

Medial fronto-facial capillary malformations.

Publish Date: December 16, 2010

Sillard L, Léauté-Labreze C, Mazereeuw-Hautier J, Viseux V, Barbarot S, Vabres P, Bessis D, Martin L, Lorette G, Berthier F, Lacour JP.

J Pediatr.

Tags: Vascular Malformations (5)

Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.

Publish Date: November 12, 2010

Martínez-Glez V, Romanelli V, Mori MA, Gracia R, Segovia M, González-Meneses A, López-Gutierrez JC, Gean E, Martorell L, Lapunzina P

Am J Med Genet A

Tags: Diagnostic Criteria (7)

Neurocutaneous vascular syndromes.

Publish Date: October 2010

Puttgen KB, Lin DD

Childs Nerv Syst

Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update.

Publish Date: January 2010

Martínez-Lage JF, Guillén-Navarro E, Almagro MJ, Felipe-Murcia M, López López-Guerrero A, Galarza M

Childs Nerv Syst

Tags: Brain Findings (11),Neurosurgery (3)

Apnea and macrocephaly-cutis marmorata telangiectatica congenita.

Publish Date: October 2009

Franklin B, Gasco J, Rangel-Castilla L, Nauta HJ

Brain Dev

Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings.

Publish Date: September 2009

Tore HG, McKinney AM, Nagar VA, Lohman B, Truwit CL, Raybaud C.

AJNR Am J Neuroradiol

Tags: MPPH Syndrome (10),Free Full Text (12)

Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature.

Publish Date: September 2009

Dueñas-Arias JE, Arámbula-Meraz E, Frías-Castro LO, Ramos-Payán R, Quibrera-Matienzo JA, Luque-Ortega F, Aguilar-Medina EM

J Med Case Reports

Tags: Free Full Text (12),Cardiac (6)

Macrocephaly-capillary malformation: a report of three cases and review of the literature.

Publish Date: May-June 2009

Gonzalez ME, Burk CJ, Barbouth DS, Connelly EA

Pediatr Dermatol

Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.

Publish Date: May 2009

Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB

Am J Med Genet A

Tags: MPPH Syndrome (10)

Macrocephaly-cutis marmorata telangiectatica congenita.

Publish Date: March-April 2009

Bagazgoitia L, Boixeda P, Marquet A, Jaén P

Eur J Dermatol

Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly.

Publish Date: August 2008

Pisano T, Meloni M, Cianchetti C, Falchi M, Nucaro A, Pruna D.

J Child Neurol

Tags: MPPH Syndrome (10)

Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features.

Publish Date: April 2008

Katugampola R, Moss C, Mills C

J Am Acad Dermatol

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

Publish Date: December 15, 2007

Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM

Am J Med Genet A

Tags: Brain Findings (11)

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.

Publish Date: August 2007

Garavelli L, Guareschi E, Errico S, Simoni A, Bergonzini P, Zollino M, Gurrieri F, Mancini GM, Schot R, Van Der Spek PJ, Frigieri G, Zonari P, Albertini E, Giustina ED, Amarri S, Banchini G, Dobyns WB, Neri G.

Neuropediatrics

Tags: MPPH Syndrome (10)

Macrocephaly-cutis marmorata telangiectatica congenita.

Publish Date: April 2007

Rekate HL

J Neurosurg

A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome.

Publish Date: Nov - Dec 2008

Colombani M, Chouchane M, Pitelet G, Morales L, Callier P, Pinard JP, Lion-François L, Thauvin-Robinet C, Mugneret F, Huet F, Guibaud L, Faivre L.

Eur J Med Genet

Tags: MPPH Syndrome (10)

[Macrocephaly-cutis marmorata telangiectatica congenita]

Publish Date: April 2006

Girard C, Bessis D, Guillot B

Ann Dermatol Venereol

Macrocephaly-cutis marmorata telangiectatica congenita syndrome—prenatal signs in ultrasonography.

Publish Date: Feb 2005

Nyberg RH, Uotila J, Kirkinen P, Rosendahl H

Prenat Diagn.

A Case of Macrocephaly-Cutis Marmorata Telangiectatica Congenita Complicated with Growth Hormone (GH)-Deficiency and Hypothyroidism

Publish Date: 2005

MINAGAWA M (Chiba Univ., Chiba, Jpn) NAGAI F (Chiba Univ., Chiba, Jpn) KANAZAWA M (Chiba Univ., Chiba, Jpn) SATO Y (Chiba Univ., Chiba, Jpn) SHIMOHASHI K (Chiba Univ., Chiba, Jpn) KAZUKAWA I (Chiba Univ., Chiba, Jpn) KOHNO Y (Chiba Univ., Chiba, Jpn)

Clin Pediatr Endocrinol

Tags: growth hormone (1),hypothyroidism (1),endocrine (1)

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.

Publish Date: 2005

Garavelli L, Leask K, Zanacca C, Pedori S, Albertini G, Della Giustina E, Croci GF, Magnani C, Banchini G, Clayton-Smith J, Bocian M, Firth H, Gold JA, Hurst J

Genet Couns

Tags: Brain Findings (11)

Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.

Publish Date: September 15, 2004

Lapunzina P, Gairí A, Delicado A, Mori MA, Torres ML, Goma A, Navia M, Pajares IL

Am J Med Genet A

A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.

Publish Date: Jul-Sep 2004

Akcar N, Adapinar B, Dinleyici C, Durak B, Ozkan IR

Ann Genet

Tags: Brain Findings (11)

Macrocephaly-Cutis marmorata telangiectatica congenita with atrial septal aneurysm and magnetic resonance imaging (MRI) findings.

Publish Date: June 2004

Dinleyici EC, Tekin N, Aksit MA, Kilic Z, Adapinar B, Bozan G

Pediatr Int

Tags: Cardiac (6)

Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.

Publish Date: March 31, 2004

Giuliano F, David A, Edery P, Sigaudy S, Bonneau D, Cormier-Daire V, Philip N

Am J Med Genet A

Tags: Brain Findings (11),Cardiac (6)

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

Publish Date: February 13, 2000

Franceschini P, Licata D, Di Cara G, Guala A, Franceschini D, Genitori L

Am J Med Genet

Tags: Diagnostic Criteria (7)

Mesenteric angina complicating a mesodermal anomaly.

Publish Date: 2000

Howells R, Curran A, Jardine P, Newbury-Ecob R, Sandhu B.

Eur J Paediatr Neurol

Macrocephaly—cutis marmorata telangiectatica congenita: report of five patients and a review of the literature.

Publish Date: January 2000

Robertson SP, Gattas M, Rogers M, Adès LC

Clin Dysmorphol

Tags: Diagnostic Criteria (7)

A case of the new overgrowth syndrome- macrocephaly with cutis marmorata, haemangioma and syndactyly.

Publish Date: May-June 1999

Moffitt DL, Kennedy CT, Newbury-Ecob R.

Pediatr Dermatol.

What syndrome is this? Macrocephaly with cutis marmorata, hemangioma, and syndactyly syndrome.

Publish Date: May-June 1999

Moffitt DL, Kennedy CT, Newbury-Ecob R.

Pediatr Dermatol.

MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.

Publish Date: March 04, 1998

Authors: Carcao M, Blaser SI, Grant RM, Weksberg R, Siegel-Bartelt J

Am J Med Genet

Tags: Brain Findings (11)

The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents.

Publish Date: 1998

Vogels A, Devriendt K, Legius E, Decock P, Marien J, Hendrickx G, Fryns JP

Genet Couns

Macrocephaly with cutis marmorata, haemangioma and syndactyly—a distinctive overgrowth syndrome.

Publish Date: October 1997

Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC, Mueller RF, Brueton L, Super M, Steen-Johnsen J, Donnai D.

Clin Dysmorphol.

Tags: First Definitions (2)

Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.

Publish Date: May 02, 1997

Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WB

Am J Med Genet. 1997 May 2;70(1):67-73

Tags: First Definitions (2)

Hemihypertrophy, hemimegalencephaly, and polydactyly.

Publish Date: December 11, 1996

Reardon W, Harding B, Winter RM, Baraitser M.

Am J Med Genet.

Macrocephaly in association with unusual cutaneous angiomatosis.

Publish Date: September 1975

Stephan MJ, Hall BD, Smith DW, Cohen MM Jr.

J Pediatr.