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Page 1
Toward the effective surveillance of hypospadias.
Dolk H, Vrijheid M, Scott JE, Addor MC, Botting B, de Vigan C, de Walle H, Garne E, Loane M, Pierini A, Garcia-Minaur S, Physick N, Tenconi R, Wiesel A, Calzolari E, Stone D. Dolk H, et al. Environ Health Perspect. 2004 Mar;112(3):398-402. doi: 10.1289/ehp.6398. Environ Health Perspect. 2004. PMID: 14998760 Free PMC article.
Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals.
Marteau TM, Nippert I, Hall S, Limbert C, Reid M, Bobrow M, Cameron A, Cornel M, van Diem M, Eiben B, García-Miñaur S, Goujard J, Kirwan D, McIntosh K, Soothill P, Verschuuren-Bemelmans C, de Vigan C, Walkinshaw S, Abramsky L, Louwen F, Miny P, Horst J; DADA Study Group. Decision-making after diagnosis of fetal abnormality. Marteau TM, et al. Prenat Diagn. 2002 Jul;22(7):562-6. doi: 10.1002/pd.374. Prenat Diagn. 2002. PMID: 12124688
Counselling following the Prenatal Diagnosis of Klinefelter Syndrome: Comparisons between Geneticists and Obstetricians in Five European Countries.
Hall S, Marteau TM, Limbert C, Reid M, Feijóo M, Soares M, Nippert I, Bobrow M, Cameron A, Van Diem M, Verschuuren-Bemelmans C, Eiben B, García-Miñaur S, Walkinshaw S, Soothill P, De Vigan C, McIntosh K, Kirwan D. Hall S, et al. Community Genet. 2001 Jun;4(4):233-238. doi: 10.1159/000064198. Community Genet. 2001. PMID: 12107352
Multiple-marker screen positive results in Noonan syndrome.
Aranguren G, García-Miñaur S, Loridan L, Uribarren A, Martín Vargas L, Rodríguez-Soriano J. Aranguren G, et al. Prenat Diagn. 1996 Feb;16(2):183-4. doi: 10.1002/(SICI)1097-0223(199602)16:2<183::AID-PD850>3.0.CO;2-F. Prenat Diagn. 1996. PMID: 8650132 No abstract available.
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, García-Miñaur S, Palomares M, Nevado J, Mori MA, Le Meur G, Klee EW, Le Caignec C, Lapunzina P, Isidor B, Babovic-Vuksanovic D. Blackburn PR, et al. Eur J Hum Genet. 2019 Sep;27(9):1379-1388. doi: 10.1038/s41431-019-0423-4. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053785 Free PMC article. Review.
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.
García-Miñaúr S, Burkitt-Wright E, Verloes A, Shaikh G, Lebl J, Östman-Smith I, Wolf CM, Ortega Castelló E, Tartaglia M, Zenker M, Edouard T. García-Miñaúr S, et al. Eur J Med Genet. 2022 Jan;65(1):104371. doi: 10.1016/j.ejmg.2021.104371. Epub 2021 Oct 29. Eur J Med Genet. 2022. PMID: 34757053 Free article.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics; Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Dyment DA, et al. Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098347 Free PMC article.
132 results