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Papers authored by Josifova D

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Nicolaides-Baraitser syndrome: Delineation of the phenotype.

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Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N,

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American journal of medical genetics. Part A 149A(8):1628-40, 2009 Aug - Who cited this? | PubMed ID: 19606471 | Fulltext

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

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Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, and Ellard S

American journal of medical genetics. Part A 146A(12):1530, 2008 Jun 15 - Who cited this? | PubMed ID: 18478590 | Fulltext

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.

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Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T, Childhood Overgrowth Collaboration,

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Nature genetics 39(8):963-5, 2007 Aug - Who cited this? | PubMed ID: 17632510 | Fulltext

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

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Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR,

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American journal of human genetics 80(6):1162-70, 2007 Jun - Who cited this? | PubMed ID: 17503333 | Fulltext

Gene symbol: ALMS1.

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Flintoff KJ and Josifova D

Human genetics 121(2):297, 2007 Apr - Who cited this? | PubMed ID: 17598220 | Fulltext

A constitutional telomeric translocation showing meiotic instability.

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Josifova DJ, Mazzaschi R, Ballard T, Ogilvie CM, and Splitt M

American journal of medical genetics. Part A 140(11):1228-33, 2006 Jun 1 - Who cited this? | PubMed ID: 16688752 | Fulltext

Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement.

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Josifova DJ, Patton MA, and Marks K

Clinical dysmorphology 13(3):151-3, 2004 Jul - Who cited this? | PubMed ID: 15194950 | Fulltext

Treatment of leg ulcers with platelet-derived wound healing factor (PDWHFS) in a patient with beta thalassaemia intermedia.

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Josifova D, Gatt G, Aquilina A, Serafimov V, Vella A, and Felice A

British journal of haematology 112(2):527-9, 2001 Feb - Who cited this? | PubMed ID: 11167859 | Fulltext

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.

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Taillandier A, Cozien E, Muller F, Merrien Y, Bonnin E, Fribourg C, Simon-Bouy B, Serre JL, Bieth E, Brenner R, Cordier MP, De Bie S, Fellmann F, Freisinger P, Hesse V, Hennekam RC,

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Human mutation 15(3):293, 2000 Mar - Who cited this? | PubMed ID: 10679946 | Fulltext

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