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Items: 1 to 50 of 143

1.

The α2 chain of type IX collagen is essential for type IX collagen biosynthesis.

Balasubramanian K, Weis M, Eyre DR, Martin J, Ortiz-Sanchez J, Duran I, Vangala S, Wang J, Friedman RA, Krakow D, Cohn DH.

Am J Med Genet A. 2019 Jun 3. doi: 10.1002/ajmg.a.61208. [Epub ahead of print] No abstract available.

PMID:
31161720
2.

Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase.

Kunova Bosakova M, Nita A, Gregor T, Varecha M, Gudernova I, Fafilek B, Barta T, Basheer N, Abraham SP, Balek L, Tomanova M, Fialova Kucerova J, Bosak J, Potesil D, Zieba J, Song J, Konik P, Park S, Duran I, Zdrahal Z, Smajs D, Jansen G, Fu Z, Ko HW, Hampl A, Trantirek L, Krakow D, Krejci P.

Proc Natl Acad Sci U S A. 2019 Feb 19. pii: 201800338. doi: 10.1073/pnas.1800338116. [Epub ahead of print]

3.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

4.

Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.

Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR; Members of the BBD Consortium.

Eur J Med Genet. 2018 Dec 26. pii: S1769-7212(18)30449-X. doi: 10.1016/j.ejmg.2018.12.011. [Epub ahead of print]

PMID:
30593885
5.

First-Trimester Abdominal Circumference (Versus Crown Rump Length) Improves Precision in Inter- and Intraobserver Variability.

Afshar Y, Gutkin R, Krakow D, Cuckle H, Silverman NS, Platt LD.

J Ultrasound Med. 2018 Dec 28. doi: 10.1002/jum.14913. [Epub ahead of print]

PMID:
30593696
6.

A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio.

Rao R, Gornbein J, Afshar Y, Platt LD, DeVore GR, Krakow D.

Prenat Diagn. 2019 Feb;39(3):200-208. doi: 10.1002/pd.5397. Epub 2019 Feb 11.

PMID:
30488473
7.

The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.

Csukasi F, Duran I, Barad M, Barta T, Gudernova I, Trantirek L, Martin JH, Kuo CY, Woods J, Lee H, Cohn DH, Krejci P, Krakow D.

Sci Transl Med. 2018 Sep 19;10(459). pii: eaat9356. doi: 10.1126/scitranslmed.aat9356.

PMID:
30232230
8.

The inositol phosphatase SHIP2 enables sustained ERK activation downstream of FGF receptors by recruiting Src kinases.

Fafilek B, Balek L, Bosakova MK, Varecha M, Nita A, Gregor T, Gudernova I, Krenova J, Ghosh S, Piskacek M, Jonatova L, Cernohorsky NH, Zieba JT, Kostas M, Haugsten EM, Wesche J, Erneux C, Trantirek L, Krakow D, Krejci P.

Sci Signal. 2018 Sep 18;11(548). pii: eaap8608. doi: 10.1126/scisignal.aap8608.

PMID:
30228226
9.

Comparative Characteristics of Patients with Type 2 Diabetes Mellitus Treated by Bariatric Surgery Versus Medical Treatment: a Multicentre Analysis of 277,862 Patients from the German/Austrian DPV Database.

Laubner K, Prinz N, Brückel J, Serwas A, Altmeier M, Welp R, Krakow D, Groß F, Bollow E, Seufert J, Holl RW; DPV Initiative.

Obes Surg. 2018 Nov;28(11):3366-3373. doi: 10.1007/s11695-018-3380-z.

PMID:
29980988
10.

NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.

Duran I, Tenney J, Warren CM, Sarukhanov A, Csukasi F, Skalansky M, Iruela-Arispe ML, Krakow D.

Am J Med Genet A. 2018 Mar;176(3):649-656. doi: 10.1002/ajmg.a.38600. Epub 2018 Jan 24.

PMID:
29363855
11.

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.

Kunova Bosakova M, Varecha M, Hampl M, Duran I, Nita A, Buchtova M, Dosedelova H, Machat R, Xie Y, Ni Z, Martin JH, Chen L, Jansen G, Krakow D, Krejci P.

Hum Mol Genet. 2018 Mar 15;27(6):1093-1105. doi: 10.1093/hmg/ddy031.

12.

Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network.

Li B, Balasubramanian K, Krakow D, Cohn DH.

BMC Genomics. 2017 Dec 20;18(1):983. doi: 10.1186/s12864-017-4378-y.

13.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):815-823. doi: 10.1016/j.ajhg.2017.09.019.

14.

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics, Lachman RS, Krakow D, Cohn DH.

Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.

15.

Proteomic analyses of signalling complexes associated with receptor tyrosine kinase identify novel members of fibroblast growth factor receptor 3 interactome.

Balek L, Nemec P, Konik P, Kunova Bosakova M, Varecha M, Gudernova I, Medalova J, Krakow D, Krejci P.

Cell Signal. 2018 Jan;42:144-154. doi: 10.1016/j.cellsig.2017.10.003. Epub 2017 Oct 13.

PMID:
29030113
16.

Lean diabetes in middle-aged adults: A joint analysis of the German DIVE and DPV registries.

Hartmann B, Lanzinger S, Bramlage P, Groß F, Danne T, Wagner S, Krakow D, Zimmermann A, Malcharzik C, Holl RW.

PLoS One. 2017 Aug 21;12(8):e0183235. doi: 10.1371/journal.pone.0183235. eCollection 2017.

17.

Osteogenesis imperfecta.

Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O.

Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. Review.

PMID:
28820180
18.

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

Balasubramanian K, Li B, Krakow D, Nevarez L, Ho PJ, Ainsworth JA, Nickerson DA, Bamshad MJ, Immken L, Lachman RS, Cohn DH.

Am J Med Genet A. 2017 Sep;173(9):2415-2421. doi: 10.1002/ajmg.a.38349. Epub 2017 Jul 25.

19.

Both the frequency of HbA1c testing and the frequency of self-monitoring of blood glucose predict metabolic control: A multicentre analysis of 15 199 adult type 1 diabetes patients from Germany and Austria.

Schwandt A, Best F, Biester T, Grünerbel A, Kopp F, Krakow D, Laimer M, Wagner C, Holl RW; Diabetes-Patienten-Verlaufsdokumentation (DPV) initiative.

Diabetes Metab Res Rev. 2017 Oct;33(7). doi: 10.1002/dmrr.2908. Epub 2017 Jun 14.

PMID:
28544457
20.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP.

Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12.

PMID:
28498505
21.

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.

Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D.

Cilia. 2017 Apr 10;6:7. doi: 10.1186/s13630-017-0051-y. eCollection 2017.

22.

Prevalence of elevated liver enzymes in adults with type 1 diabetes: A multicentre analysis of the German/Austrian DPV database.

Stadler M, Bollow E, Fritsch M, Kerner W, Schuetz-Fuhrmann I, Krakow D, Merger S, Riedl M, Jehle P, Holl RW; DPV Initiative and the German BMBF Competence Network Diabetes mellitus.

Diabetes Obes Metab. 2017 Aug;19(8):1171-1178. doi: 10.1111/dom.12929. Epub 2017 Apr 10.

PMID:
28256088
23.

Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone.

Lietman CD, Lim J, Grafe I, Chen Y, Ding H, Bi X, Ambrose CG, Fratzl-Zelman N, Roschger P, Klaushofer K, Wagermaier W, Schmidt I, Fratzl P, Rai J, Weis M, Eyre D, Keene DR, Krakow D, Lee BH.

J Bone Miner Res. 2017 Jun;32(6):1354-1367. doi: 10.1002/jbmr.3108. Epub 2017 Mar 20.

24.

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.

Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, Grange DK, Butler MG, Kleefstra T, Lachman RS, Nickerson D, Regnier M, Cohn DH, Bamshad M, Krakow D.

Sci Rep. 2017 Feb 16;7:41803. doi: 10.1038/srep41803.

25.

A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen.

Duran I, Martin JH, Weis MA, Krejci P, Konik P, Li B, Alanay Y, Lietman C, Lee B, Eyre D, Cohn DH, Krakow D.

J Bone Miner Res. 2017 Jun;32(6):1309-1319. doi: 10.1002/jbmr.3095. Epub 2017 Apr 6.

26.

Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.

Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B.

PLoS Genet. 2016 Dec 9;12(12):e1006502. doi: 10.1371/journal.pgen.1006502. eCollection 2016 Dec.

27.

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

Badiner N, Taylor SP, Forlenza K, Lachman RS; University of Washington Center for Mendelian Genomics, Bamshad M, Nickerson D, Cohn DH, Krakow D.

Clin Genet. 2017 Aug;92(2):158-165. doi: 10.1111/cge.12947. Epub 2017 Mar 13.

28.

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.

Duran I, Taylor SP, Zhang W, Martin J, Forlenza KN, Spiro RP, Nickerson DA, Bamshad M, Cohn DH, Krakow D.

Sci Rep. 2016 Sep 26;6:34232. doi: 10.1038/srep34232.

29.

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.

Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B.

PLoS Genet. 2016 Sep 13;12(9):e1006307. doi: 10.1371/journal.pgen.1006307. eCollection 2016 Sep. Erratum in: PLoS Genet. 2016 Dec 9;12 (12 ):e1006502.

30.

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

Weinstein MM, Kang T, Lachman RS, Bamshad M, Nickerson DA, Krakow D, Cohn DH.

Am J Med Genet A. 2016 Dec;170(12):3298-3302. doi: 10.1002/ajmg.a.37942. Epub 2016 Aug 17.

31.

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.

Zhang W, Taylor SP, Nevarez L, Lachman RS, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics Consortium, Krakow D, Cohn DH.

Hum Mol Genet. 2016 Sep 15;25(18):4012-4020. doi: 10.1093/hmg/ddw241. Epub 2016 Jul 27.

32.

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

Paige Taylor S, Kunova Bosakova M, Varecha M, Balek L, Barta T, Trantirek L, Jelinkova I, Duran I, Vesela I, Forlenza KN, Martin JH, Hampl A; University of Washington Center for Mendelian Genomics, Bamshad M, Nickerson D, Jaworski ML, Song J, Ko HW, Cohn DH, Krakow D, Krejci P.

Hum Mol Genet. 2016 Sep 15;25(18):3998-4011. doi: 10.1093/hmg/ddw240. Epub 2016 Jul 27.

33.

Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ; University of Washington Center for Mendelian Genomics, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB.

Nat Genet. 2016 Jul 27;48(8):970. doi: 10.1038/ng0816-970b. No abstract available.

PMID:
27463398
34.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP.

Am J Hum Genet. 2016 Aug 4;99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024. Epub 2016 Jul 15.

35.

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

Krakow D, Cohn DH, Wilcox WR, Noh GJ, Raffel LJ, Sarukhanov A, Ivanova MH, Danielpour M, Grange DK, Elliott AM, Bernstein JA, Rimoin DL, Merrill AE, Lachman RS.

Am J Med Genet A. 2016 Oct;170(10):2652-61. doi: 10.1002/ajmg.a.37772. Epub 2016 May 30.

36.

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ; University of Washington Center for Mendelian Genomics, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB.

Nat Genet. 2016 Jun;48(6):648-56. doi: 10.1038/ng.3558. Epub 2016 May 9. Erratum in: Nat Genet. 2016 Jul 27;48(8):970.

37.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.

Nat Commun. 2016 Mar 29;7:11270. doi: 10.1038/ncomms11270. No abstract available.

38.

TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.

Zieba J, Forlenza KN, Khatra JS, Sarukhanov A, Duran I, Rigueur D, Lyons KM, Cohn DH, Merrill AE, Krakow D.

PLoS Genet. 2016 Mar 28;12(3):e1005936. doi: 10.1371/journal.pgen.1005936. eCollection 2016 Mar.

39.

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta.

Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Krischer J, Mullins M, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC.

Genet Med. 2016 Jun;18(6):570-6. doi: 10.1038/gim.2015.131. Epub 2015 Oct 1.

40.

Collagen duplicate genes of bone and cartilage participate during regeneration of zebrafish fin skeleton.

Duran I, Csukasi F, Taylor SP, Krakow D, Becerra J, Bombarely A, Marí-Beffa M.

Gene Expr Patterns. 2015 Sep-Nov;19(1-2):60-9. doi: 10.1016/j.gep.2015.07.004. Epub 2015 Aug 7.

PMID:
26256560
41.

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS; University of Washington Center for Mendelian Genomics Consortium, Nelson SF, Cohn DH, Vallee RB, Krakow D.

Nat Commun. 2015 Jun 16;6:7092. doi: 10.1038/ncomms8092.

42.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.

Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Erratum in: Nat Commun. 2016;7:11270.

43.

Skeletal dysplasias.

Krakow D.

Clin Perinatol. 2015 Jun;42(2):301-19, viii. doi: 10.1016/j.clp.2015.03.003. Epub 2015 Apr 8. Review.

44.

Impact of Physical Activity on Glycemic Control and Prevalence of Cardiovascular Risk Factors in Adults With Type 1 Diabetes: A Cross-sectional Multicenter Study of 18,028 Patients.

Bohn B, Herbst A, Pfeifer M, Krakow D, Zimny S, Kopp F, Melmer A, Steinacker JM, Holl RW; DPV Initiative.

Diabetes Care. 2015 Aug;38(8):1536-43. doi: 10.2337/dc15-0030. Epub 2015 May 26.

PMID:
26015557
45.

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

Lee H, Nevarez L, Lachman RS, Wilcox WR, Krakow D, Cohn DH; University of Washington Center for Mendelian Genomics.

Am J Med Genet A. 2015 Oct;167A(10):2470-3. doi: 10.1002/ajmg.a.37173. Epub 2015 May 22. No abstract available.

46.

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004.

47.

Detection of Y chromosome material in a 46,XX male with SRY translocation: novel application of cell-free fetal DNA testing.

Benedict K, Han CS, Silverman NS, Krakow D, Platt LD.

Prenat Diagn. 2015 Aug;35(8):823-5. doi: 10.1002/pd.4604. Epub 2015 Jun 2. No abstract available.

PMID:
25871731
48.

HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.

Duran I, Nevarez L, Sarukhanov A, Wu S, Lee K, Krejci P, Weis M, Eyre D, Krakow D, Cohn DH.

Hum Mol Genet. 2015 Apr 1;24(7):1918-28. doi: 10.1093/hmg/ddu608. Epub 2014 Dec 15.

49.

Are insulin analogues detemir or glulisine used preferentially in overweight/obese subjects? A German multicentre analysis of 38560 type 2 diabetic patients from the DPV registry.

Bohn B, Scheuing N, Jehle PM, Laubner K, Born B, Merger S, Hummel M, Krakow D, Voll A, Zimmermann A, Zimny S, Holl RW; DPV and APV initiatives and the German BMBF Competence Networks Diabetes mellitus and Obesity.

Exp Clin Endocrinol Diabetes. 2014 Nov;122(10):602-7. doi: 10.1055/s-0034-1383646. Epub 2014 Jul 23.

PMID:
25054308
50.

Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders.

Martin BM, Ivanova MH, Sarukhanov A, Kim A, Power P, Pugash D, Popescu OE, Lachman RS, Krakow D, Patel MS.

Am J Med Genet A. 2014 Oct;164A(10):2490-5. doi: 10.1002/ajmg.a.36656. Epub 2014 Jul 3.

PMID:
24995648

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