All individuals with variants in gene UBR1

81 entries on 1 page. Showing entries 1 - 81.
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00073556 - PubMed: Zenker 2005 #JBS04; PubMed: Sukalo 2014 #1.1; PubMed: Corona-Rivera 2016 #3 - M no Costa Rica Indian >11y09m - - - JBS diabetes n/a, GH deficiency n/a 1 1 Maja Sukalo
00073557 - PubMed: Guzman and Carranza 1997 #2; PubMed: Zenker 2005 #JBS03; PubMed: Sukalo 2014 #2.1; PubMed: Corona-Rivera 2016 #5 - F no Costa Rica Indian >08y - - - JBS diabetes n/a, no GH deficiency (-HP:0000824) 1 1 Maja Sukalo
00073558 - PubMed: Guzman and Carranza 1997 #1; PubMed: Zenker 2005 #JBS03; PubMed: Sukalo 2014 #2.2; PubMed: Corona-Rivera 2016 #6 - M no Costa Rica Indian 00y09m - - - JBS diabetes n/a, GH deficiency n/a, autism 1 1 Maja Sukalo
00073559 - PubMed: Zenker 2005 #JBS01; PubMed: Sukalo 2014 #3.1 - F yes Turkey - >10y - - - JBS no diabetes, GH deficiency n/a 1 1 Maja Sukalo
00073560 - PubMed: Zenker 2005 #JBS02; PubMed: Schoner 2011 #1; PubMed: Sukalo 2014 #4.1 - M yes Turkey - >07y - - - JBS diabetes n/a, GH deficiency (HP:0000824), delayed bone age 1 1 Maja Sukalo
00073561 - PubMed: Zenker 2005 #JBS02; PubMed: Schoner 2011 #2; PubMed: Sukalo 2014 #4.2 - M yes Turkey - 00y00m - - - JBS diabetes n/a, GH deficiency n/a, cystic kidney displasia, hypoplastic epididymides 1 1 Maja Sukalo
00073562 - PubMed: Rudnik-Schöneborn 1991 #2; PubMed: Zenker 2005 #JBS06; PubMed: Sukalo 2014 #5.1 - M yes Lebanon - >14y10m - - - JBS diabetes n/a, GH deficiency n/a 1 1 Maja Sukalo
00073563 - PubMed: Rudnik-Schöneborn 1991 #1; PubMed: Zenker 2005 #JBS06; PubMed: Sukalo 2014 #5.2 - M yes Lebanon - 00y01m - - - JBS diabetes n/a, GH deficiency n/a 1 1 Maja Sukalo
00073564 - PubMed: Sukalo 2014 #5.3 - F yes (Germany) - >00y04m - - - JBS diabetes n/a, GH deficiency n/a 1 1 Maja Sukalo
00073565 - PubMed: Zenker 2005 #JBS05; PubMed: Hwang 2011 #2; PubMed: Sukalo 2014 #6.1 - F no Netherlands - >13y06m - - - JBS no diabetes, GH deficiency n/a, undefined genital and renal malformations 2 1 Maja Sukalo
00073566 - PubMed: Vanlieferinghen 2001; PubMed: Zenker 2005 #JBS09; PubMed: Sukalo 2014 #7.1 - M yes Turkey - 00y01m - - - JBS diabetes n/a, GH deficiency n/a, normal bone age 1 1 Maja Sukalo
00073567 - PubMed: Vanlieferinghen 2003; PubMed: Sukalo 2014 #7.2 - M yes Turkey - 00y00m - - - JBS diabetes n/a, GH deficiency n/a, bilatral ureteral dilatation, hydronephrosis, polycystic dysplasia 1 1 Maja Sukalo
00073568 - PubMed: Zerres and Holtgrave 1986; PubMed: Zenker 2005 #JBS07; PubMed: Sukalo 2014 #8.1 - F no Germany - >11y - - - JBS diabetes n/a, GH deficiency n/a, delayed bone age 2 1 Maja Sukalo
00073569 - PubMed: Rudnik-Schöneborn 1991 #3; PubMed: Swanenburg de Veye 1991; PubMed: Zenker 2005 #JBS08; PubMed: Sukalo 2014 #9.1 - M no Netherlands white >25y - - - JBS no diabetes, GH deficiency n/a, IQ 130, delayed bone age 2 1 Maja Sukalo
00073570 - PubMed: Jones 1994 #1; PubMed: Timoney 2004 #2; PubMed: Zenker 2005 #JBS10; PubMed: Cheung 2009 #1; PubMed: Sukalo 2014 #10.1 Further publication: PubMed: Corona-Rivera et al. 2016 #7 F no Portugal - >12y - - - JBS diabetes (onset 12y), no GH deficiency (-HP:0000824), moderate autism, left duplex collecting system and left ureterocele with reflux 1 1 Maja Sukalo
00073571 - PubMed: Jones 1994 #2; PubMed: Timoney 2004 #1; PubMed: Zenker 2005 #JBS11; PubMed: Cheung 2009 #2; PubMed: Sukalo 2014 #11.1 - M yes India - >13y - - - JBS no diabetes, GH deficiency n/a, severe autism, motor delay (wheel chair) 1 1 Maja Sukalo
00073572 - PubMed: Zenker 2005 #JBS13; PubMed: Sukalo 2014 #12.1 - M yes Israel - >04y06m - - - JBS diabetes n/a, GH deficiency n/a 1 1 Maja Sukalo
00073573 - PubMed: Vieira 2002; PubMed: Zenker 2005 #JBS12; PubMed: Sukalo 2014 #13.1 - F yes - African >01y01m - - - JBS diabetes n/a, GH deficiency n/a 1 1 Maja Sukalo
00073574 - PubMed: Sukalo 2014 #14.1 - M yes Afghanistan - >03y - - - JBS diabetes n/a, GH deficiency n/a 1 1 Maja Sukalo
00073575 - PubMed: Hwang 2011 #3; PubMed: Sukalo 2014 #15.1 - F no Portugal - >15y03m - - - JBS no diabetes, no GH deficiency (-HP:0000824), hyperactivity, café-au-lait spots 2 1 Maja Sukalo
00073576 - PubMed: Mcheik 2002; PubMed: Sukalo 2014 #16.1 - M no France - >11y11m - - - JBS no diabetes, GH deficiency n/a, hyperactivity, café-au-lait spot 2 1 Maja Sukalo
00073577 - PubMed: Sukalo 2014 #17.1 - M no Germany white >19y - - - JBS no diabetes, GH deficiency n/a, mild autism 2 1 Maja Sukalo
00073578 - PubMed: Hwang 2011 #1; PubMed: Sukalo 2014 #18.1 - F no Spain - >20y - - - JBS no diabetes, GH deficiency n/a 2 1 Maja Sukalo
00073579 - PubMed: Elting 2008 #1; PubMed: Sukalo 2014 #19.1 - F yes Turkey - >07y01m - - - JBS no diabetes, GH deficiency n/a 1 1 Maja Sukalo
00073580 - PubMed: Elting 2008 (sister of #1); PubMed: Sukalo 2014 #19.2 - F yes Turkey - >22y - - - JBS diabetes n/a, GH deficiency n/a 1 1 Maja Sukalo
00073581 - PubMed: Sukalo 2014 #20.1 - F ? Guatemala - >00y05m - - - JBS no diabetes, GH deficiency n/a 1 1 Maja Sukalo
00073582 - PubMed: Sukalo 2014 #21.1 - M no - Cherokee >12y01m - - - JBS no diabetes, GH deficiency n/a 2 1 Maja Sukalo
00073583 - PubMed: Reichart 1979 #1; PubMed: Sukalo 2014 #22.1 - F no Germany - >12y - - - JBS no diabetes, GH deficiency n/a 1 1 Maja Sukalo
00073584 - PubMed: Reichart 1979 #2; PubMed: Sukalo 2014 #22.2 - F no Germany - >07y - - - JBS no diabetes, GH deficiency n/a 1 1 Maja Sukalo
00073585 - PubMed: Alkhouri 2008; PubMed: Sukalo 2014 #23.1 - F no - white >12y03m - - - JBS no diabetes, GH deficiency n/a 2 1 Maja Sukalo
00073586 - PubMed: Sukalo 2014 #24.1 So far, only heterozygous UBR1 mutation detected (Sanger sequencing and MLPA) F no - white >37y - - - JBS diabetes (age of onset: 18y), no GH deficiency (-HP:0000824), 2 abortions, 1 unaffected son 1 1 Maja Sukalo
00073587 - PubMed: Elting 2008 #2; PubMed: Sukalo 2014 #25.1 - F yes Iran - >05y06m - - - JBS no diabetes, GH deficiency n/a, motor delay 1 1 Maja Sukalo
00073588 - PubMed: Elting 2008 (sister of #2); PubMed: Sukalo 2014 #25.2 - F yes Iran - 00y03m - - - JBS diabetes n/a, GH deficiency n/a 1 1 Maja Sukalo
00073589 - PubMed: Sukalo 2014 #26.1 - F no - white >05y07m - - - JBS no diabetes, GH deficiency n/a 2 1 Maja Sukalo
00073590 - PubMed: Sukalo 2014 #27.1 - M no Indonesia - >08y11m - - - JBS diabetes n/a, GH deficiency n/a 2 1 Maja Sukalo
00073591 - PubMed: Sukalo 2014 #28.1 - F no Australia white >18y - - - JBS diabetes (age of onset: 11y), no GH deficiency (-HP:0000824), retarted bone age, small right kidney 2 1 Maja Sukalo
00073592 - PubMed: Sukalo 2014 #29.1 - M no Germany white >12y02m - - - JBS no diabetes, no GH deficiency (-HP:0000824) 1 1 Maja Sukalo
00073593 - PubMed: Sukalo 2014 #29.2 - F no Germany white >09y09m - - - JBS no diabetes, no GH deficiency (-HP:0000824) 1 1 Maja Sukalo
00073594 - PubMed: Sukalo 2014 #30.1 - M - Brazil - >15y02m - - - JBS no diabetes, GH deficiency n/a, motor delay 1 1 Maja Sukalo
00073595 - PubMed: Sukalo 2014 #31.1 - F no Brazil white >15y - - - JBS no diabetes, GH deficiency n/a, mildly retarded bone age 2 1 Maja Sukalo
00073596 - PubMed: Sukalo 2014 #32.1 - F ? - - >23y - - - JBS no diabetes, GH deficiency n/a 1 1 Maja Sukalo
00073597 - PubMed: Sukalo 2014 #32.2 - M ? - - >20y - - - JBS no diabetes, GH deficiency n/a 1 1 Maja Sukalo
00073598 - PubMed: Sukalo 2014 #32.3 - F ? - - >17y - - - JBS diabetes (age of onset: 16y), GH deficiency n/a 1 1 Maja Sukalo
00073599 - PubMed: Liu 2011; PubMed: Sukalo 2014 #33.1 - F no Mongolia - >01y09m - - - JBS no diabetes, GH deficiency n/a 2 1 Maja Sukalo
00073600 - PubMed: Sukalo 2014 #34.1 - M no Germany white >07y08m - - - JBS no diabetes, GH deficiency n/a, renal anomalies 2 1 Maja Sukalo
00073601 - PubMed: Fallahi 2011; PubMed: Sukalo 2014 #35.1 - M yes (Iran) - >03y06m - - - JBS no diabetes, GH deficiency (HP:0000824), mitral valve dysplasia, myxomatous mitral valve 1 1 Maja Sukalo
00073602 - PubMed: Al-Dosari 2008; PubMed: Sukalo 2014 #36.1 - M yes Saudi Arabia - >00y03m - - - JBS no diabetes, GH deficiency n/a, jaundiced (7d), direct hyperbilirubinemia, renal anomalies 1 1 Maja Sukalo
00073603 - PubMed: Sukalo 2014 #37.1; PubMed: Corona-Rivera 2016 #4 - M no Russian Federation - >17y - - - JBS no diabetes, GH deficiency n/a 2 1 Maja Sukalo
00073604 - PubMed: Sukalo 2014 #38.1 - M yes Turkey - >00y08m - - - JBS diabetes n/a, GH deficiency n/a, hypoalbuminemia, anemia 1 1 Maja Sukalo
00073605 - PubMed: Almashraki 2011; PubMed: Sukalo 2014 #39.1 - M yes Yemen - >03y - - - JBS no diabetes, GH deficiency n/a, anaeamia, thrombocytopenia, no eye lashes and brows 1 1 Maja Sukalo
00073606 - PubMed: Sukalo 2014 #40.1 - M no United States - >22y - - - JBS no diabetes, GH deficiency n/a, right kidney hypertrophic, left missing 2 1 Maja Sukalo
00073607 - PubMed: Sukalo 2014 #41.1 - F yes Mexico - >02y03m - - - JBS no diabetes, GH deficiency n/a, LDL low, delayed bone age, café-au-lait spots 1 1 Maja Sukalo
00073608 - PubMed: Sukalo 2014 #42.1 - F no Mexico - >13y07m - - - JBS no diabetes, GH deficiency n/a, umbilical hernia at birth, urinary meatus imperforated at birth, absence of vaginal inner lips 2 1 Maja Sukalo
00073609 - PubMed: Sukalo 2014 #43.1 - F yes Turkey - >01y08m - - - JBS no diabetes, GH deficiency n/a 1 1 Maja Sukalo
00073610 - PubMed: Sukalo 2014 #44.1; PubMed: Corona-Rivera 2016 #2 - F yes Costa Rica - 00y04m - - - JBS no diabetes, GH deficiency n/a, natal teeth 1 1 Maja Sukalo
00073611 - PubMed: Sukalo 2014 #45.1 - M yes Turkey - >01y03m - - - JBS no diabetes, GH deficiency n/a 1 1 Maja Sukalo
00073612 - PubMed: Sukalo 2014 #46.1 - F yes India - 00y04m - - - JBS diabetes n/a, GH deficiency n/a 1 1 Maja Sukalo
00073613 - PubMed: Singh 2014; PubMed: Sukalo 2014 #47.1 - M yes India - >00y03m - - - JBS no diabetes, GH deficiency n/a 1 1 Maja Sukalo
00073614 - PubMed: Godbole 2013; PubMed: Sukalo 2014 #48.1 - F yes India - >00y10m - - - JBS diabetes n/a, GH deficiency n/a 1 1 Maja Sukalo
00073615 - PubMed: Sukalo 2014 #49.1 - F yes Bahrain - >01y02m - - - JBS no diabetes, GH deficiency n/a 1 1 Maja Sukalo
00073616 - PubMed: Sukalo 2014 #50.1 - F yes Brazil - 00y03m - - - JBS no diabetes, GH deficiency (HP:0000824), congenital hypopituitarism 1 1 Maja Sukalo
00073617 - PubMed: Quaio 2014 - F no Brazil - 00y03m - - - JBS - 1 1 Maja Sukalo
00073618 - - - M yes Turkey - >00y00m - - - JBS no diabetes, renal anomalies 1 1 Maja Sukalo
00073619 - - - F yes Yemen - >00y02m - - - JBS no diabetes, no renal anomalies 1 1 Maja Sukalo
00073620 - - - F yes Iran - >00y03m - - - JBS diabetes?, no renal anomalies 1 1 Maja Sukalo
00073621 - - no clinical data available M yes - - >04y04m - - - JBS - 1 1 Maja Sukalo
00073622 - - - M no - white >00y08m - - - JBS no diabetes, no renal anomalies 2 1 Maja Sukalo
00073623 - - - M yes Turkey - >02y00m - - - JBS no diabetes, no renal anomaliesne 1 1 Maja Sukalo
00073624 - PubMed: Atik 2015 - F no Turkey - >03y - - - JBS no diabetes, no renal anomaliesne 2 1 Maja Sukalo
00073625 - - - F yes Turkey - >01y00m - - - JBS diabetes?, no renal anomalies 1 1 Maja Sukalo
00073626 - - - F yes Turkey - >00y05m - - - JBS diabetes?, renal anomalies unknown 1 1 Maja Sukalo
00073627 - - - F yes - - >00y01m - - - JBS diabetes?, renal anomalies unknown 1 1 Maja Sukalo
00073628 - PubMed: Corona-Rivera 2016 #1 - M no Mexico - 00y02m - - - JBS diabetes?, renal anomalies left multicystic kidney with hydronephrosis 2 1 Maja Sukalo
00073629 - - - M yes Turkey - >00y05m - - - JBS no diabetes, no renal anomaliesne 1 1 Maja Sukalo
00079972 - - - F ? Costa Rica - >00y05m - - - JBS - 1 1 Maja Sukalo
00079973 - - - M yes Turkey - >01y05m - - - JBS - 1 1 Maja Sukalo
00079976 - - - M yes Turkey - - - - - JBS - 1 1 Maja Sukalo
00079978 - - - F no - Hispanic >04y02m - - - JBS - 2 1 Maja Sukalo
00291207 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00291208 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 103 Mohammed Faruq
00304465 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
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