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Items: 1 to 50 of 90

1.

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.

Oziębło D, Sarosiak A, Leja ML, Budde BS, Tacikowska G, Di Donato N, Bolz HJ, Nürnberg P, Skarżyński H, Ołdak M.

J Transl Med. 2019 Oct 26;17(1):351. doi: 10.1186/s12967-019-2099-5.

2.

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K.

Am J Hum Genet. 2019 Nov 7;105(5):987-995. doi: 10.1016/j.ajhg.2019.09.009. Epub 2019 Oct 3.

PMID:
31587868
3.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG.

Am J Hum Genet. 2019 Oct 3;105(4):844-853. doi: 10.1016/j.ajhg.2019.08.013.

PMID:
31585108
4.

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk ØL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla ØL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K.

Am J Hum Genet. 2019 Jul 3;105(1):213-220. doi: 10.1016/j.ajhg.2019.05.005. Epub 2019 Jun 20.

5.

Parental mosaicism in epilepsies due to alleged de novo variants.

Møller RS, Liebmann N, Larsen LHG, Stiller M, Hentschel J, Kako N, Abdin D, Di Donato N, Pal DK, Zacher P, Syrbe S, Dahl HA, Lemke JR.

Epilepsia. 2019 Jun;60(6):e63-e66. doi: 10.1111/epi.15187. Epub 2019 May 11.

PMID:
31077350
6.

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R.

Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3.

7.

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.

Alter S, Hotz A, Jahn A, Di Donato N, Schröck E, Smitka M, von der Hagen M, Schallner J, Menschikowski M, Gillitzer C, Laass MW, Fischer J, Tzschach A.

Am J Med Genet A. 2018 Dec;176(12):2862-2866. doi: 10.1002/ajmg.a.40634. Epub 2018 Dec 18. Review.

PMID:
30561130
8.

PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.

Abdin D, Rump A, Tzschach A, Sarnow K, Schröck E, Hackmann K, Di Donato N.

Eur J Med Genet. 2019 Dec;62(12):103587. doi: 10.1016/j.ejmg.2018.11.021. Epub 2018 Nov 23.

PMID:
30472487
9.

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N.

Nat Commun. 2018 Nov 19;9(1):4930. doi: 10.1038/s41467-018-07404-6.

10.

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N.

Nat Commun. 2018 Oct 12;9(1):4250. doi: 10.1038/s41467-018-06713-0. Erratum in: Nat Commun. 2018 Nov 19;9(1):4930.

11.

Diagnostic value of partial exome sequencing in developmental disorders.

Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A.

PLoS One. 2018 Aug 9;13(8):e0201041. doi: 10.1371/journal.pone.0201041. eCollection 2018.

12.

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.

13.

Novel truncating PPM1D mutation in a patient with intellectual disability.

Porrmann J, Rump A, Hackmann K, Di Donato N, Kahlert AK, Wagner J, Jahn A, Eger I, Flury M, Schrock E, Tzschach A, Gieldon L.

Eur J Med Genet. 2019 Jan;62(1):70-72. doi: 10.1016/j.ejmg.2018.05.006. Epub 2018 May 11.

PMID:
29758292
14.

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Brock S, Stouffs K, Scalais E, D'Hooghe M, Keymolen K, Guerrini R, Dobyns WB, Di Donato N, Jansen AC.

Eur J Hum Genet. 2018 Aug;26(8):1132-1142. doi: 10.1038/s41431-018-0146-y. Epub 2018 Apr 30.

15.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.

Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.

16.

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nürnberg G, Toliat M, Nürnberg P, Mürbe D, Bolz HJ.

Genet Med. 2018 Jun;20(6):614-621. doi: 10.1038/gim.2017.155. Epub 2017 Oct 12.

17.

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.

Schmelzer L, Smitka M, Wolf C, Lucas N, Tüngler V, Hahn G, Tzschach A, Di Donato N, Lee-Kirsch MA, von der Hagen M.

Eur J Paediatr Neurol. 2018 Jan;22(1):186-189. doi: 10.1016/j.ejpn.2017.11.003. Epub 2017 Nov 22.

PMID:
29221912
18.

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

Gieldon L, Mackenroth L, Betcheva-Krajcir E, Rump A, Beck-Wödl S, Schallner J, Di Donato N, Schröck E, Tzschach A.

Am J Med Genet A. 2017 Sep;173(9):2545-2550. doi: 10.1002/ajmg.a.38348. Epub 2017 Aug 4.

PMID:
28777483
19.

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

Porrmann J, Betcheva-Krajcir E, Di Donato N, Kahlert AK, Schallner J, Rump A, Schröck E, Dobritzsch D, Roelofsen J, van Kuilenburg ABP, Tzschach A.

Am J Med Genet A. 2017 Oct;173(10):2736-2742. doi: 10.1002/ajmg.a.38359. Epub 2017 Jul 25.

PMID:
28742244
20.

Pierpont syndrome: report of a new patient.

Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schröck E, Tzschach A.

Clin Dysmorphol. 2017 Oct;26(4):205-208. doi: 10.1097/MCD.0000000000000184.

PMID:
28562391
21.

Lissencephaly: Expanded imaging and clinical classification.

Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB.

Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi: 10.1002/ajmg.a.38245. Epub 2017 Apr 25.

22.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.

J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.

23.

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.

Podolska A, Kobelt A, Fuchs S, Hackmann K, Rump A, Schröck E, Kutsche K, Di Donato N.

Am J Med Genet A. 2017 May;173(5):1334-1341. doi: 10.1002/ajmg.a.38183. Epub 2017 Mar 31.

PMID:
28371302
24.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW.

PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar.

25.

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

Kasper BS, Dörfler A, Di Donato N, Kasper EM, Wieczorek D, Hoyer J, Zweier C.

Epilepsy Behav. 2017 Apr;69:104-109. doi: 10.1016/j.yebeh.2017.01.022. Epub 2017 Feb 23.

PMID:
28237832
26.

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

Rath M, Spiegler S, Nath N, Schwefel K, Di Donato N, Gerber J, Korenke GC, Hellenbroich Y, Hehr U, Gross S, Sure U, Zoll B, Gilberg E, Kaderali L, Felbor U.

Mol Genet Genomic Med. 2016 Dec 20;5(1):21-27. doi: 10.1002/mgg3.256. eCollection 2017 Jan.

27.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG.

Neuromuscul Disord. 2016 Nov;26(11):744-748. doi: 10.1016/j.nmd.2016.09.009. Epub 2016 Sep 19.

PMID:
27751653
28.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN.

Am J Hum Genet. 2016 Nov 3;99(5):1117-1129. doi: 10.1016/j.ajhg.2016.09.010. Epub 2016 Oct 20.

29.

Uterine Retroversion in Rectosigmoid Endometriotic Nodule Affected Women: A New Technique for Uterine Suspension.

Di Donato N, Costantino C, Montanari G, Facchini C, Zanello M, Seracchioli R.

J Minim Invasive Gynecol. 2015 Nov-Dec;22(6S):S77. doi: 10.1016/j.jmig.2015.08.206. Epub 2015 Oct 15. No abstract available.

PMID:
27679336
30.

Size of Rectosigmoid Endometriotic Nodule and Dyschezia: What's the Novelty?

Di Donato N, Costantino C, Montanari G, Facchini C, Zanello M, Seracchioli R.

J Minim Invasive Gynecol. 2015 Nov-Dec;22(6S):S169. doi: 10.1016/j.jmig.2015.08.630. Epub 2015 Oct 15. No abstract available.

PMID:
27678928
31.

Uterine Suspension: A New Laparoscopic Technique.

Di Donato N, Costantino C, Montanari G, Facchini C, Zanello M, Seracchioli R.

J Minim Invasive Gynecol. 2015 Nov-Dec;22(6S):S147. doi: 10.1016/j.jmig.2015.08.525. Epub 2015 Oct 15. No abstract available.

PMID:
27678820
32.

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Hackmann K, Kuhlee F, Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach A, Kast K, Wimberger P, Schrock E, Rump A.

Breast Cancer Res Treat. 2016 Oct;159(3):585-90. doi: 10.1007/s10549-016-3956-z. Epub 2016 Aug 31.

PMID:
27581129
33.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.

Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7.

PMID:
27302555
34.

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Di Donato N, Kuechler A, Vergano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB.

Am J Med Genet A. 2016 Oct;170(10):2644-51. doi: 10.1002/ajmg.a.37771. Epub 2016 May 30.

PMID:
27240540
35.

Performance of Circulating Placental Growth Factor as A Screening Marker for Diagnosis of Ovarian Endometriosis: A Pilot Study.

Zucchini C, De Sanctis P, Facchini C, Di Donato N, Montanari G, Bertoldo V, Farina A, Curti A, Seracchioli R.

Int J Fertil Steril. 2016 Jan-Mar;9(4):483-9. Epub 2015 Dec 23.

36.

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

Dehmel M, Brenner S, Suttorp M, Hahn G, Schützle H, Dinger J, Di Donato N, Mackenroth L, von der Hagen M.

Neuropediatrics. 2016 Jun;47(3):182-6. doi: 10.1055/s-0036-1578799. Epub 2016 Mar 7.

PMID:
26951492
37.

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A.

J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3.

PMID:
26843489
38.

Sexual function in women undergoing surgery for deep infiltrating endometriosis: a comparison with healthy women.

Di Donato N, Montanari G, Benfenati A, Monti G, Leonardi D, Bertoldo V, Facchini C, Raimondo D, Villa G, Seracchioli R.

J Fam Plann Reprod Health Care. 2015 Oct;41(4):278-83.

39.

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Di Donato N, Rump A, Mirzaa GM, Alcantara D, Oliver A, Schrock E, Dobyns WB, O'Driscoll M.

Hum Mutat. 2016 Mar;37(3):242-5. doi: 10.1002/humu.22933. Epub 2015 Dec 15.

40.

Baraitser-Winter Cerebrofrontofacial Syndrome.

Verloes A, Drunat S, Pilz D, Di Donato N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2015 Nov 19.

41.

A case report of a large placental lake in a woman affected by complex cardiac disease.

Di Donato N, Bartolini L, Pilu G, Rizzo N.

J Obstet Gynaecol. 2016;36(3):386-7. doi: 10.3109/01443615.2015.1073233. Epub 2015 Oct 14. No abstract available.

PMID:
26467782
42.

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N.

Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11.

PMID:
26358559
43.

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.

Mackenroth L, Hackmann K, Beyer A, Schallner J, Novotna B, Klink B, Schröck E, Di Donato N.

Am J Med Genet A. 2015 Nov;167A(11):2800-7. doi: 10.1002/ajmg.a.37266. Epub 2015 Sep 3.

PMID:
26334553
44.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T.

Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30.

45.

Does laparoscopic shaving for deep infiltrating endometriosis alter intestinal function? A prospective study.

Seracchioli R, Ferrini G, Montanari G, Raimondo D, Spagnolo E, Di Donato N.

Aust N Z J Obstet Gynaecol. 2015 Aug;55(4):357-62. doi: 10.1111/ajo.12358. Epub 2015 Jul 23.

PMID:
26201679
46.

Diagnosis and laparoscopic management of a rare endometriosis-related peritoneal mass with rapid growth in early pregnancy.

Di Donato N, Facchini C, Leggieri C, Caprara G, Seracchioli R.

J Obstet Gynaecol Res. 2015 Aug;41(8):1287-90. doi: 10.1111/jog.12714. Epub 2015 May 15.

PMID:
25976375
47.

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

Beste C, Ocklenburg S, von der Hagen M, Di Donato N.

Brain Struct Funct. 2016 Jun;221(5):2487-91. doi: 10.1007/s00429-015-1051-6. Epub 2015 May 1.

PMID:
25930014
48.

Sexual function in women undergoing surgery for deep infiltrating endometriosis: a comparison with healthy women.

Di Donato N, Montanari G, Benfenati A, Monti G, Leonardi D, Bertoldo V, Facchini C, Raimondo D, Villa G, Seracchioli R.

J Fam Plann Reprod Health Care. 2015 Apr 16. pii: jfprhc-2014-100993. doi: 10.1136/jfprhc-2014-100993. [Epub ahead of print]

PMID:
25883096
49.

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Papuc SM, Hackmann K, Andrieux J, Vincent-Delorme C, Budişteanu M, Arghir A, Schrock E, Ţuţulan-Cuniţă AC, Di Donato N.

Eur J Med Genet. 2015 May;58(5):319-23. doi: 10.1016/j.ejmg.2015.03.005. Epub 2015 Apr 6.

PMID:
25858704
50.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

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Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.

PMID:
25792522

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