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1
Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure
Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure
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Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure

Katari, S ; Wood-Trageser, M. A ; Jiang, H ; Kalynchuk, E ; Muzumdar, R ; Yatsenko, S. A ; Rajkovic, A

The journal of clinical endocrinology and metabolism, 2015-06, Vol.100 (6), p.2154-2157 [Periódico revisado por pares]

United States: Endocrine Society

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2
High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy
High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy
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High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy

Yatsenko, S.A. ; Bakos, H.A. ; Vitullo, K. ; Kedrov, M. ; Kishore, A. ; Jennings, B.J. ; Surti, U. ; Wood-Trageser, M.A. ; Cercone, S. ; Yatsenko, A.N. ; Rajkovic, A. ; Iannaccone, A.

Clinical genetics, 2016-01, Vol.89 (1), p.82-87 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

Leipoldt, M ; Erdel, M ; Bien-Willner, GA ; Smyk, M ; Theurl, M ; Yatsenko, SA ; Lupski, JR ; Lane, AH ; Shanske, AL ; Stankiewicz, P ; Scherer, G

Clinical genetics, 2007-01, Vol.71 (1), p.67-75 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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4
Identification of critical regions for clinical features of distal 10q deletion syndrome
Identification of critical regions for clinical features of distal 10q deletion syndrome
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Identification of critical regions for clinical features of distal 10q deletion syndrome

Yatsenko, SA ; Kruer, MC ; Bader, PI ; Corzo, D ; Schuette, J ; Keegan, CE ; Nowakowska, B ; Peacock, S ; Cai, WW ; Peiffer, DA ; Gunderson, KL ; Ou, Z ; Chinault, AC ; Cheung, SW

Clinical genetics, 2009-07, Vol.76 (1), p.54-62 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
Application of chromosomal microarray in the evaluation of abnormal prenatal findings
Application of chromosomal microarray in the evaluation of abnormal prenatal findings
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Application of chromosomal microarray in the evaluation of abnormal prenatal findings

Yatsenko, SA ; Davis, S ; Hendrix, NW ; Surti, U ; Emery, S ; Canavan, T ; Speer, P ; Hill, L ; Clemens, M ; Rajkovic, A

Clinical genetics, 2013-07, Vol.84 (1), p.47-54 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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6
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
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Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

Yatsenko, S A ; Cheung, S W ; Scott, D A ; Nowaczyk, M J M ; Tarnopolsky, M ; Naidu, S ; Bibat, G ; Patel, A ; Leroy, J G ; Scaglia, F ; Stankiewicz, P ; Lupski, J R

Journal of medical genetics, 2005-04, Vol.42 (4), p.328-335 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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7
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome
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Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome

Yatsenko, SA ; Yatsenko, AN ; Szigeti, K ; Craigen, WJ ; Stankiewicz, P ; Cheung, SW ; Lupski, JR

Clinical genetics, 2004-08, Vol.66 (2), p.128-136 [Periódico revisado por pares]

Oxford, UK; Malden, USA: Munksgaard International Publishers

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8
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency
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Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

Bestetti, I ; Barbieri, C ; Sironi, A ; Specchia, V ; Yatsenko, S A ; De Donno, M D ; Caslini, C ; Gentilini, D ; Crippa, M ; Larizza, L ; Marozzi, A ; Rajkovic, A ; Toniolo, D ; Bozzetti, M P ; Finelli, P

Human reproduction (Oxford), 2021-10, Vol.36 (11), p.2975-2991 [Periódico revisado por pares]

Oxford University Press

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9
Omphalocele in trisomy 3q: further delineation of phenotype
Omphalocele in trisomy 3q: further delineation of phenotype
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Omphalocele in trisomy 3q: further delineation of phenotype

Yatsenko, SA ; Mendoza-Londono, R ; Belmont, JW ; Shaffer, LG

Clinical genetics, 2003-11, Vol.64 (5), p.404-413 [Periódico revisado por pares]

Oxford, UK: Munksgaard International Publishers

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10
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Campbell, Ian M. ; Yatsenko, Svetlana A. ; Hixson, Patricia ; Reimschisel, Tyler ; Thomas, Matthew ; Wilson, William ; Dayal, Usha ; Wheless, James W. ; Crunk, Amy ; Curry, Cynthia ; Parkinson, Nicole ; Fishman, Leona ; Riviello, James J. ; Nowaczyk, Malgorzata J.M. ; Zeesman, Susan ; Rosenfeld, Jill A. ; Bejjani, Bassem A. ; Shaffer, Lisa G. ; Cheung, Sau Wai ; Lupski, James R. ; Stankiewicz, Pawel ; Scaglia, Fernando

Genetics in medicine, 2012-10, Vol.14 (10), p.868-876 [Periódico revisado por pares]

United States: Elsevier Inc

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