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Items: 1 to 50 of 505

1.

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.

de La Dure-Molla M, Fournier BP, Manzanares MC, Acevedo AC, Hennekam RC, Friedlander L, Boy-Lefèvre ML, Kerner S, Toupenay S, Garrec P, Vi-Fane B, Felizardo R, Berteretche MV, Jordan L, Ferré F, Clauss F, Jung S, de Chalendar M, Troester S, Kawczynski M, Chaloyard J; International Group of Dental Nomenclature, Manière MC, Berdal A, Bloch-Zupan A.

Am J Med Genet A. 2019 Oct;179(10):1913-1981. doi: 10.1002/ajmg.a.61316. Epub 2019 Aug 29.

PMID:
31468724
2.

Thyroid function in males with fragile X syndrome.

Huisman SA, Wiedijk BM, van Eeghen AM, Hennekam RC, van Trotsenburg ASP.

J Pediatr Endocrinol Metab. 2019 Aug 27;32(8):903-905. doi: 10.1515/jpem-2019-0224. No abstract available.

PMID:
31280236
3.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM.

Hum Mutat. 2019 Jun 17. doi: 10.1002/humu.23841. [Epub ahead of print]

PMID:
31206972
4.

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.

Kariminejad A, Vahidnezhad H, Ghaderi-Sohi S, Ghannadan AR, Youssefian L, Parsimehr E, Faraji Zonooz M, Kariminejad MH, Uitto J, Najmabadi H, Hennekam RC.

Am J Med Genet A. 2019 Aug;179(8):1547-1555. doi: 10.1002/ajmg.a.61260. Epub 2019 Jun 11.

PMID:
31184804
5.

Multiple tumors due to mosaic genome-wide paternal uniparental disomy.

Postema FAM, Bliek J, van Noesel CJM, van Zutven LJCM, Oosterwijk JC, Hopman SMJ, Merks JHM, Hennekam RC.

Pediatr Blood Cancer. 2019 Jun;66(6):e27715. doi: 10.1002/pbc.27715. Epub 2019 Mar 18.

PMID:
30882989
6.

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.

Angius A, Uva P, Oppo M, Persico I, Onano S, Olla S, Pes V, Perria C, Cuccuru G, Atzeni R, Serra G, Cucca F, Sotgiu S, Hennekam RC, Crisponi L.

Am J Med Genet A. 2019 Apr;179(4):634-638. doi: 10.1002/ajmg.a.61052. Epub 2019 Feb 8.

PMID:
30737887
7.

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC.

Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Review.

PMID:
30677142
8.

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, White SM, Meschino WS, Shuen AY, Paré G, Bulman DE, Ainsworth PJ, Lin H, Rodenhiser DI, Hennekam RC, Boycott KM, Schwartz CE, Sadikovic B.

Nat Commun. 2018 Nov 20;9(1):4885. doi: 10.1038/s41467-018-07193-y.

9.

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

van Kuilenburg ABP, Meijer J, Meinsma R, Pérez-Dueñas B, Alders M, Bhuiyan ZA, Artuch R, Hennekam RCM.

JIMD Rep. 2019;45:65-69. doi: 10.1007/8904_2018_138. Epub 2018 Oct 23.

10.

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC.

J Med Genet. 2018 Dec;55(12):837-846. doi: 10.1136/jmedgenet-2018-105528. Epub 2018 Oct 15.

PMID:
30323018
11.

Objectifying Micrognathia Using Three-Dimensional Photogrammetric Analysis.

Basart H, Suttie M, Ibrahim A, Ferretti P, van der Horst CMAM, Hennekam RC, Hammond P.

J Craniofac Surg. 2018 Nov;29(8):2106-2109. doi: 10.1097/SCS.0000000000005056.

PMID:
30320700
12.

Development, behaviour and autism in individuals with SMC1A variants.

Mulder PA, Huisman S, Landlust AM, Moss J; SMC1A Consortium, Piening S, Hennekam RC, van Balkom IDC.

J Child Psychol Psychiatry. 2019 Mar;60(3):305-313. doi: 10.1111/jcpp.12979. Epub 2018 Oct 8.

PMID:
30295920
13.

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Castori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S, Tomassi J, Lanciotti S, Mundlos S, Hennekam RC, Kornak U, Brancati F.

Am J Med Genet A. 2018 Sep;176(9):2028-2033. doi: 10.1002/ajmg.a.40379. Epub 2018 Sep 8.

PMID:
30194892
14.

A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.

Abarca Barriga HH, Caballero N, Trubnykova M, Castro-Mujica MDC, La Serna-Infantes JE, Vásquez F, Hennekam RC.

Am J Med Genet A. 2018 Nov;176(11):2494-2500. doi: 10.1002/ajmg.a.40508. Epub 2018 Sep 8.

PMID:
30194805
15.

Mutations in IRS4 are associated with central hypothyroidism.

Heinen CA, de Vries EM, Alders M, Bikker H, Zwaveling-Soonawala N, van den Akker ELT, Bakker B, Hoorweg-Nijman G, Roelfsema F, Hennekam RC, Boelen A, van Trotsenburg ASP, Fliers E.

J Med Genet. 2018 Oct;55(10):693-700. doi: 10.1136/jmedgenet-2017-105113. Epub 2018 Jul 30.

16.

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018).

Carey JC, Hennekam RCM, Lin AE, Barr M Jr.

Am J Med Genet A. 2018 Aug;176(8):1703-1705. doi: 10.1002/ajmg.a.38845. Epub 2018 Jul 28. No abstract available.

17.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC.

Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Review.

PMID:
29995837
18.

Further delineation of Malan syndrome.

Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC.

Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25.

19.

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.

Ivanovski I, Akbaroghli S, Pollazzon M, Gelmini C, Caraffi SG, Mansouri M, Chavoshzadeh Z, Rosato S, Polizzi V, Gargano G, Alders M, Garavelli L, Hennekam RC.

Am J Med Genet A. 2018 May;176(5):1166-1174. doi: 10.1002/ajmg.a.38652.

PMID:
29681106
20.

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Menke LA; DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC.

Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626. Epub 2018 Feb 20.

PMID:
29460469
21.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM.

Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25.

22.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER.

Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Review.

23.

Benign and malignant tumors in Rubinstein-Taybi syndrome.

Boot MV, van Belzen MJ, Overbeek LI, Hijmering N, Mendeville M, Waisfisz Q, Wesseling P, Hennekam RC, de Jong D.

Am J Med Genet A. 2018 Mar;176(3):597-608. doi: 10.1002/ajmg.a.38603. Epub 2018 Jan 23.

24.

Genetic Analyses in Small-for-Gestational-Age Newborns.

Stalman SE, Solanky N, Ishida M, Alemán-Charlet C, Abu-Amero S, Alders M, Alvizi L, Baird W, Demetriou C, Henneman P, James C, Knegt LC, Leon LJ, Mannens MMAM, Mul AN, Nibbering NA, Peskett E, Rezwan FI, Ris-Stalpers C, van der Post JAM, Kamp GA, Plötz FB, Wit JM, Stanier P, Moore GE, Hennekam RC.

J Clin Endocrinol Metab. 2018 Mar 1;103(3):917-925. doi: 10.1210/jc.2017-01843.

PMID:
29342293
25.

TBC1D24-Related Disorders.

Mucha BE, Hennekam RCM, Sisodiya S, Campeau PM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2015 Feb 26 [updated 2017 Dec 7].

26.

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.

Zwaveling-Soonawala N, Alders M, Jongejan A, Kovacic L, Duijkers FA, Maas SM, Fliers E, van Trotsenburg ASP, Hennekam RC.

J Clin Endocrinol Metab. 2018 Feb 1;103(2):415-428. doi: 10.1210/jc.2017-01660.

PMID:
29165578
27.

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

Writzl K, Maver A, Kovačič L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radović S, Thauvin-Robinet C, Peterlin B, Del Arco A, Hennekam RC.

Am J Hum Genet. 2017 Nov 2;101(5):844-855. doi: 10.1016/j.ajhg.2017.09.017.

28.

Development and validation of a severity scoring system for Zellweger spectrum disorders.

Klouwer FCC, Meester-Delver A, Vaz FM, Waterham HR, Hennekam RCM, Poll-The BT.

Clin Genet. 2018 Mar;93(3):613-621. doi: 10.1111/cge.13130. Epub 2017 Dec 1.

PMID:
28857144
29.

Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review.

Postema FAM, Hopman SMJ, Hennekam RC, Merks JHM.

Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26718. Epub 2017 Aug 22. Review.

PMID:
28834056
30.

Peters Plus Syndrome.

Lesnik Oberstein SAJ, Ruivenkamp CAL, Hennekam RC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Oct 8 [updated 2017 Aug 24].

31.

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.

De Maria B, de Jager T, Sarubbi C, Bartsch O, Bianchi A, Brancati F, Chung HB, David A, Kariminejad A, Foresti M, Gallottini M, Isidor B, Marchegiani S, Martins F, Mazzanti L, Roche N, Singh A, Stevens C, Suga K, Zenker M, Hennekam RC.

Mol Syndromol. 2017 Jun;8(4):172-178. doi: 10.1159/000472408. Epub 2017 Apr 27.

32.

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.

Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE.

Clin Cancer Res. 2017 Jul 1;23(13):e115-e122. doi: 10.1158/1078-0432.CCR-17-0710. Review.

33.

Variants in KAT6A and pituitary anomalies.

Zwaveling-Soonawala N, Maas SM, Alders M, Majoie CB, Fliers E, van Trotsenburg ASP, Hennekam RCM.

Am J Med Genet A. 2017 Sep;173(9):2562-2565. doi: 10.1002/ajmg.a.38330. Epub 2017 Jun 21. No abstract available.

PMID:
28636259
34.

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC.

Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26.

PMID:
28548707
35.

Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation.

Postema FAM, Hopman SMJ, Aalfs CM, Berger LPV, Bleeker FE, Dommering CJ, Jongmans MCJ, Letteboer TGW, Olderode-Berends MJW, Wagner A, Hennekam RC, Merks JHM.

Eur J Cancer. 2017 Jul;80:48-54. doi: 10.1016/j.ejca.2017.04.021. Epub 2017 May 23. Review.

PMID:
28544908
36.

Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

Postema FAM, Hopman SMJ, Deardorff MA, Merks JHM, Hennekam RC.

Am J Med Genet A. 2017 Aug;173(8):2293-2295. doi: 10.1002/ajmg.a.38290. Epub 2017 May 24. No abstract available.

PMID:
28544518
37.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP.

Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12.

PMID:
28498505
38.

Nomenclature and definition in asymmetric regional body overgrowth.

Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC.

Am J Med Genet A. 2017 Jul;173(7):1735-1738. doi: 10.1002/ajmg.a.38266. Epub 2017 May 5.

39.

Mapping the human DC lineage through the integration of high-dimensional techniques.

See P, Dutertre CA, Chen J, Günther P, McGovern N, Irac SE, Gunawan M, Beyer M, Händler K, Duan K, Sumatoh HRB, Ruffin N, Jouve M, Gea-Mallorquí E, Hennekam RCM, Lim T, Yip CC, Wen M, Malleret B, Low I, Shadan NB, Fen CFS, Tay A, Lum J, Zolezzi F, Larbi A, Poidinger M, Chan JKY, Chen Q, Rénia L, Haniffa M, Benaroch P, Schlitzer A, Schultze JL, Newell EW, Ginhoux F.

Science. 2017 Jun 9;356(6342). pii: eaag3009. doi: 10.1126/science.aag3009. Epub 2017 May 4.

PMID:
28473638
40.

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

Casertano A, Fontana P, Hennekam RC, Tartaglia M, Genesio R, Dieber TB, Ortega L, Nitsch L, Melis D.

Am J Med Genet A. 2017 Jul;173(7):1896-1902. doi: 10.1002/ajmg.a.38124. Epub 2017 Apr 30.

PMID:
28462983
41.

Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC.

Am J Med Genet A. 2017 Jul;173(7):1763-1772. doi: 10.1002/ajmg.a.38246. Epub 2017 Apr 26.

PMID:
28447407
42.

Trichorhinophalangeal Syndrome.

Maas S, Shaw A, Bikker H, Hennekam RCM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Apr 20.

43.

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

Fleger M, Willomitzer J, Meinsma R, Alders M, Meijer J, Hennekam RCM, Huemer M, van Kuilenburg ABP.

JIMD Rep. 2017;37:49-54. doi: 10.1007/8904_2017_14. Epub 2017 Mar 9.

44.

Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study.

Postema FA, Hopman SM, de Borgie CA, Hammond P, Hennekam RC, Merks JH; TuPS study group, Aalfs CM, Anninga JK, Berger LP, Bleeker FE, de Bont ES, de Borgie CA, Dommering CJ, van Eijkelenburg NK, Hammond P, Hennekam RC, van den Heuvel-Eibrink MM, Hopman SM, Jongmans MC, Kors WA, Letteboer TG, Loeffen JL, Merks JH, Olderode-Berends MJ, Postema FA, Wagner A; TuPS study group.

BMJ Open. 2017 Jan 20;7(1):e013237. doi: 10.1136/bmjopen-2016-013237.

45.

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

van Kuilenburg AB, Meijer J, Maurer D, Dobritzsch D, Meinsma R, Los M, Knegt LC, Zoetekouw L, Jansen RL, Dezentjé V, van Huis-Tanja LH, van Kampen RJ, Hertz JM, Hennekam RC.

Biochim Biophys Acta Mol Basis Dis. 2017 Mar;1863(3):721-730. doi: 10.1016/j.bbadis.2016.12.010. Epub 2016 Dec 24.

46.

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM.

J Hum Genet. 2017 Apr;62(4):465-471. doi: 10.1038/jhg.2016.151. Epub 2016 Dec 22.

47.

Behaviour in Cornelia de Lange syndrome: a systematic review.

Mulder PA, Huisman SA, Hennekam RC, Oliver C, van Balkom ID, Piening S.

Dev Med Child Neurol. 2017 Apr;59(4):361-366. doi: 10.1111/dmcn.13361. Epub 2016 Dec 18. Review.

48.

The Dutch legal approach regarding health care decisions involving minors in the NGS days.

Kranendonk EJ, Hennekam RC, Ploem MC.

Eur J Hum Genet. 2017 Feb;25(2):166. doi: 10.1038/ejhg.2016.159. Epub 2016 Nov 23. No abstract available.

49.

Paediatric biobanking: Dutch experts reflecting on appropriate legal standards for practice.

Kranendonk EJ, Hennekam RC, Ploem MC.

Eur J Pediatr. 2017 Jan;176(1):75-82. doi: 10.1007/s00431-016-2810-y. Epub 2016 Nov 19. Review.

50.

Mutations in TBL1X Are Associated With Central Hypothyroidism.

Heinen CA, Losekoot M, Sun Y, Watson PJ, Fairall L, Joustra SD, Zwaveling-Soonawala N, Oostdijk W, van den Akker EL, Alders M, Santen GW, van Rijn RR, Dreschler WA, Surovtseva OV, Biermasz NR, Hennekam RC, Wit JM, Schwabe JW, Boelen A, Fliers E, van Trotsenburg AS.

J Clin Endocrinol Metab. 2016 Dec;101(12):4564-4573. Epub 2016 Sep 7.

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