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1.

Phosphodiesterase 3A and Arterial Hypertension.

Ercu, Maria; Markó, Lajos; Schächterle, Carolin; Tsvetkov, Dmitry; Cui, Yingqiu; Maghsodi, Sara; Bartolomaeus, Theda U P; Maass, Philipp G; Zühlke, Kerstin; Gregersen, Nerine; Hübner, Norbert; Hodge, Russell; Mühl, Astrid; Pohl, Bärbel; Illas, Rosana Molé; Geelhaar, Andrea; Walter, Stephan; Napieczynska, Hanna; Schelenz, Stefanie; Taube, Martin; Heuser, Arnd; Anistan, Yoland-Marie; Qadri, Fatimunnisa; Todiras, Mihail; Plehm, Ralph; Popova, Elena; Langanki, Reika; Eichhorst, Jenny; Lehmann, Martin; Wiesner, Burkhard; Russwurm, Michael; Forslund, Sofia K; Kamer, Ilona; Müller, Dominik N; Gollasch, Maik; Aydin, Atakan; Bähring, Sylvia; Bader, Michael; Luft, Friedrich C; Klussmann, Enno.

Circulation ; 142(2): 133-149, 2020 07 14.

Article in English | MEDLINE | ID: mdl-32524868

2.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Sekiguchi, Futoshi; Tsurusaki, Yoshinori; Okamoto, Nobuhiko; Teik, Keng Wee; Mizuno, Seiji; Suzumura, Hiroshi; Isidor, Bertrand; Ong, Winnie Peitee; Haniffa, Muzhirah; White, Susan M; Matsuo, Mari; Saito, Kayoko; Phadke, Shubha; Kosho, Tomoki; Yap, Patrick; Goyal, Manisha; Clarke, Lorne A; Sachdev, Rani; McGillivray, George; Leventer, Richard J; Patel, Chirag; Yamagata, Takanori; Osaka, Hitoshi; Hisaeda, Yoshiya; Ohashi, Hirofumi; Shimizu, Kenji; Nagasaki, Keisuke; Hamada, Junpei; Dateki, Sumito; Sato, Takashi; Chinen, Yasutsugu; Awaya, Tomonari; Kato, Takeo; Iwanaga, Kougoro; Kawai, Masahiko; Matsuoka, Takashi; Shimoji, Yoshikazu; Tan, Tiong Yang; Kapoor, Seema; Gregersen, Nerine; Rossi, Massimiliano; Marie-Laure, Mathieu; McGregor, Lesley; Oishi, Kimihiko; Mehta, Lakshmi; Gillies, Greta; Lockhart, Paul J; Pope, Kate; Shukla, Anju; Girisha, Katta Mohan.

J Hum Genet ; 64(12): 1173-1186, 2019 Dec.

Article in English | MEDLINE | ID: mdl-31530938

3.

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.

Nguyen, Ngoc Minh Phuong; Khawajkie, Yassemine; Mechtouf, Nawel; Rezaei, Maryam; Breguet, Magali; Kurvinen, Elvira; Jagadeesh, Sujatha; Solmaz, Asli Ece; Aguinaga, Monica; Hemida, Reda; Harma, Mehmet Ibrahim; Rittore, Cécile; Rahimi, Kurosh; Arseneau, Jocelyne; Hovanes, Karine; Clisham, Ronald; Lenzi, Tiffanee; Scurry, Bonnie; Addor, Marie-Claude; Bagga, Rashmi; Nendaz, Genevieve Girardet; Finci, Vildana; Poke, Gemma; Grimes, Leslie; Gregersen, Nerine; York, Kayla; Bolze, Pierre-Adrien; Patel, Chirag; Mozdarani, Hossein; Puechberty, Jacques; Scotchie, Jessica; Fardaei, Majid; Harma, Muge; Gardner, R J McKinlay; Sahoo, Trilochan; Dudding-Byth, Tracy; Srinivasan, Radhika; Sauthier, Philippe; Slim, Rima.

Mod Pathol ; 31(7): 1116-1130, 2018 07.

Article in English | MEDLINE | ID: mdl-29463882

4.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Lee, Eric; Le, Trang; Zhu, Ying; Elakis, George; Turner, Anne; Lo, William; Venselaar, Hanka; Verrenkamp, Carol-Ann; Snow, Nicole; Mowat, David; Kirk, Edwin Philip; Sachdev, Rani; Smith, Janine; Brown, Natasha Jane; Wallis, Mathew; Barnett, Chris; McKenzie, Fiona; Freckmann, Mary-Louise; Collins, Felicity; Chopra, Maya; Gregersen, Nerine; Hayes, Ian; Rajagopalan, Sulekha; Tan, Tiong Yang; Stark, Zornitza; Savarirayan, Ravi; Yeung, Alison; Adès, Lesley; Gattas, Michael; Gibson, Kate; Gabbett, Michael; Amor, David John; Lattanzi, Wanda; Boyd, Simeon; Haan, Eric; Gianoutsos, Mark; Cox, Timothy Chilton; Buckley, Michael Francis; Roscioli, Tony.

Genet Med ; 20(9): 1061-1068, 2018 09.

Article in English | MEDLINE | ID: mdl-29215649

5.

Facial asymmetry with colon atresia.

Gregersen, Nerine.

Clin Dysmorphol ; 15(1): 45-46, 2006 Jan.

Article in English | MEDLINE | ID: mdl-16317310

6.

Saccular Cyst and Airway Compromise in a New Born With Ciliopathy.

Gruber, Maayan; Gregersen, Nerine; Hegarty, Jo; Mahadevan, Murali; Salkeld, Lesley.

Ear Nose Throat J ; 99(4): NP40-NP41, 2020 May.

Article in English | MEDLINE | ID: mdl-30961373

7.

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region.

Mc Cormack, Adrian; Sharpe, Cynthia; Gregersen, Nerine; Smith, Warwick; Hayes, Ian; George, Alice M; Love, Donald R.

Case Rep Genet ; 2015: 192071, 2015.

Article in English | MEDLINE | ID: mdl-26266063

8.

The Greater Sekhukhune-CAPABILITY outreach project.

Gregersen, Nerine; Lampret, Julie; Lane, Tony; Christianson, Arnold.

J Community Genet ; 4(3): 335-41, 2013 Jul.

Article in English | MEDLINE | ID: mdl-23842823

9.

Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.

Mc Cormack, Adrian; Taylor, Juliet; Gregersen, Nerine; George, Alice M; Love, Donald R.

Case Rep Genet ; 2013: 823451, 2013.

Article in English | MEDLINE | ID: mdl-23840981

10.

Thyroid dysfunction in a cohort of South African children with Down syndrome.

Moosa, Shahida; Segal, David G; Christianson, Arnold L; Gregersen, Nerine E.

S Afr Med J ; 103(12 Suppl 1): 966-70, 2013 Jul 29.

Article in English | MEDLINE | ID: mdl-24300639

11.

Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay.

Sheath, Karen L; Mazzaschi, Roberto L; Aftimos, Salim; Gregersen, Nerine E; George, Alice M; Love, Donald R.

Sultan Qaboos Univ Med J ; 13(2): 311-7, 2013 May.

Article in English | MEDLINE | ID: mdl-23862040

12.

Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: a New Zealand perspective.

Doherty, Elaine; O'Connor, Rachel; Zhang, Anna; Lim, Christina; Love, Jennifer M; Ashton, Fern; Claxton, Karen; Gregersen, Nerine; George, Alice M; Love, Donald R.

Mol Med Rep ; 7(5): 1710-4, 2013 May.

Article in English | MEDLINE | ID: mdl-23525284

13.

Novel CYP2C9 and VKORC1 gene variants associated with warfarin dosage variability in the South African black population.

Mitchell, Cathrine; Gregersen, Nerine; Krause, Amanda.

Pharmacogenomics ; 12(7): 953-63, 2011 Jul.

Article in English | MEDLINE | ID: mdl-21635147

14.

Uptake of Genetic Counselling Services by Patients with Cystic Fibrosis and Their Families

Gregersen, Nerine; Krause, Amanda; Macaulay, Shelley.

S. Afr. fam. pract. (2004, Online) ; 54(3): 250-255, 2012.

Article in English | AIM | ID: biblio-1269971

15.

Costello syndrome with growth hormone deficiency and hypoglycemia: a new report and review of the endocrine associations.

Gregersen, Nerine; Viljoen, Denis.

Am J Med Genet A ; 129A(2): 171-5, 2004 Aug 30.

Article in English | MEDLINE | ID: mdl-15316966

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