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A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 de Mollerat, X. J.; Gurrieri, Fiorella; Morgan, C. T.; Sangiorgi, Eugenio; ... Schwartz, C. E. 2003
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Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region Lyle, Robert; Radhakrishna, Uppala; Blouin, Jean-Louis; Gagos, Sarantis; ... Antonarakis, Stylianos 2006
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Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis Naveed, Mohammed; Al-Ali, M. T.; Murthy, S. K.; Al-Hajali, Sarah; ... Radhakrishna, Uppala 2006
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Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34 Radhakrishna, Uppala; Ratnamala, Uppala; Gaines, Mathew; Beiraghi, Soraya; ... Nath, S. K. 2006
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Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome Mehenni, Hamid; Resta, Nicoletta; Guanti, Ginevra; Mota-Vieira, Louisa; ... Picard, Didier 2007
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Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1 Beiraghi, Soraya; Nath, S. K.; Gaines, Matthew; Mandhyan, D. D.; ... Radhakrishna, Uppala 2007
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Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1 Naveed, Mohammed; Nath, S. K.; Gaines, Mathew; Al-Ali, M. T.; ... Radhakrishna, Uppala 2007
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Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing Ratnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala 2011
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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G 2012
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Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus Radhakrishna, Uppala; Ratnamala, Uppala; Deutsch Escalante, Samuel; Bartoloni Riotto, Lucia; ... Antonarakis, Stylianos 2012
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Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion Klopocki, Eva; Lohan, Silke; Doelken, Sandra C; Stricker, Sigmar; ... Mundlos, Stefan 2012