FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Uppala Radhakrishna

Research Profile

Concepts & Ideas

Genes & Molecular Sequences

Physiology

Procedures

Anatomy

Disorders

Geographic Areas

India

Chemicals & Drugs

Microsatellite Repeats

Co-author Network

Publications

TOP 3
Uppala Radhakrishna; Uppala Ratnamala; Raminder Singh; Jasjit Banwait; Lucia Bartoloni; Dhundy K Bastola; Samuel Deutsch; Kaid Johar; Murali R Kuracha; Swapan K Nath; Stylianos E Antonarakis
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
Uppala Radhakrishna; Uppala Ratnamala; Charles E Schwartz; Andrew J Sharp; Celi Sun; David B Everman; Maryline Gagnebin; Amit K Maiti; Ken McElreavey; Jeffrey C Murray; Swapan K Nath; Heather L Newkirk; Stylianos E Antonarakis; Frédérique Béna; Merlin G Butler
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.
Eva Klopocki; Ulrike Kordass; Ingo Kurth; Karina Lezirovitz; Silke Lohan; Outi Mäkitie; Regina Celia Mingroni Netto; Mohammed Naveed; Charlotte W Ockeloen; Uppala Radhakrishna; Anna Rajab; Hitesh Shah; Renata Soares Thiele de Aguiar; Sigmar Stricker; Matthew Warman; Stylianos E Antonarakis; koenraad devriendt; Sandra C Doelken; Rolf Habenicht; Maja Hempel; Denise Horn; Aleksander Jamsheer; Stefan Mundlos
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Uppala Radhakrishna (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2012: Uppala Radhakrishna; Uppala Ratnamala; Raminder Singh; Jasjit Banwait; Lucia Bartoloni; Dhundy K Bastola; Samuel Deutsch; Kaid Johar; Murali R Kuracha; Swapan K Nath; Stylianos E Antonarakis
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
European journal of human genetics : EJHG 2012;20(10):1032-6.
2012: Uppala Radhakrishna; Uppala Ratnamala; Charles E Schwartz; Andrew J Sharp; Celi Sun; David B Everman; Maryline Gagnebin; Amit K Maiti; Ken McElreavey; Jeffrey C Murray; Swapan K Nath; Heather L Newkirk; Stylianos E Antonarakis; Frédérique Béna; Merlin G Butler
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.
Journal of medical genetics 2012;49(4):270-6.
2012: Eva Klopocki; Ulrike Kordass; Ingo Kurth; Karina Lezirovitz; Silke Lohan; Outi Mäkitie; Regina Celia Mingroni Netto; Mohammed Naveed; Charlotte W Ockeloen; Uppala Radhakrishna; Anna Rajab; Hitesh Shah; Renata Soares Thiele de Aguiar; Sigmar Stricker; Matthew Warman; Stylianos E Antonarakis; koenraad devriendt; Sandra C Doelken; Rolf Habenicht; Maja Hempel; Denise Horn; Aleksander Jamsheer; Stefan Mundlos
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
Journal of medical genetics 2012;49(2):119-25.
2011: Malgorzata Rydzanicz; Celi Sun; Daniel Winters; Bassem A Bejjani; Agata Frajdenberg; Malgorzata Mrugacz; Swapan K Nath; Monika Podfigurna-Musielak; Uppala Radhakrishna; Uppala Ratnamala; Marzena Gajecka
Identification of novel suggestive loci for high-grade myopia in Polish families.
Molecular vision 2011;17():2028-39.
2010: Anu Bashamboo; Bruno Ferraz-de-Souza; Diana Lourenço; Lin Lin; Neil J Sebire; Debbie Montjean; Joelle Bignon-Topalovic; Jacqueline Mandelbaum; Jean-Pierre Siffroi; Sophie Christin-Maitre; Uppala Radhakrishna; Hassan Rouba; Celia Ravel; Jacob Seeler; John C Achermann; Ken McElreavey
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
American journal of human genetics 2010;87(4):505-12.
2010: Faiza Mohamed Saleh Al-Ali; Uppala Ratnamala; Timir Y Mehta; Mohammad Naveed; Mahmoud T Al Ali; Najib Al Khaja; Jayesh J Sheth; Dilipkumar C Master; Amit K Maiti; Ghati K Chetan; Swapan K Nath; Uppala Radhakrishna
Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1-1q25.3 region.
Experimental dermatology 2010;19(9):851-3.
2010: Jason M Foster; Uppala Radhakrishna; Venkatesh Govindarajan; Joseph H Carreau; Zoran Gatalica; Poonam Sharma; Swapan K Nath; Brian W Loggie
Clinical implications of novel activating EGFR mutations in malignant peritoneal mesothelioma.
World journal of surgical oncology 2010;8():88.
2009: Marzena Gajecka; Uppala Radhakrishna; Daniel Winters; Swapan K Nath; Malgorzata Rydzanicz; Uppala Ratnamala; Kimberly Ewing; Andrea Molinari; Jose A Pitarque; Kwanghyuk Lee; Suzanne M Leal; Bassem A Bejjani
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
Investigative ophthalmology & visual science 2009;50(4):1531-9.
2008: Dana J Orten; Stephanie M Fischer; Jessica L Sorensen; Uppala Radhakrishna; Cor W R J Cremers; Henri Marres; Guy Van Camp; Katherine O Welch; Richard J H Smith; William J Kimberling
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
Human mutation 2008;29(4):537-44.
2007: Hamid Mehenni; Nicoletta Resta; Ginevra Guanti; Luisa Mota-vieira; Aaron Lerner; Mohammed Peyman; Kim A Chong; Larbi Aissa; Ali Ince; Angel Cosme; Michael C Costanza; Colette Rossier; Uppala Radhakrishna; Randall W Burt; Didier Picard
Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.
Digestive diseases and sciences 2007;52(8):1924-33.
2007: Soraya Beiraghi; Swapan K Nath; Mathew Gaines; Desh D Mandhyan; David Hutchings; Uppala Ratnamala; Ken McElreavey; Lucia Bartoloni; Gregory S Antonarakis; Stylianos E Antonarakis; Uppala Radhakrishna
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1.
American journal of human genetics 2007;81(1):180-8.
2007: Mohammed Naveed; Swapan K Nath; Mathew Gaines; Mahmoud T Al Ali; Najib Al Khaja; David Hutchings; Jeffrey Golla; Samuel Deutsch; Armand Bottani; Stylianos E Antonarakis; Uppala Ratnamala; Uppala Radhakrishna
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.
American journal of human genetics 2007;80(1):105-11.
2006: Celia Ravel; Brahim El Houate; S Chantot; D Lourenço; A Dumaine; Hassan Rouba; A Bandyopadahyay; Uppala Radhakrishna; B Das; S Sengupta; Jacqueline Mandelbaum; Jean-Pierre Siffroi; Ken McElreavey
Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26.
Molecular human reproduction 2006;12(10):643-6.
2006: Uppala Radhakrishna; Uppala Ratnamala; Mathew Gaines; Soraya Beiraghi; David Hutchings; Jeffrey Golla; Syed A Husain; Prakash S Gambhir; FRENNY SHETH; Frenny J Sheth; Ghati K Chetan; Mohammed Naveed; Jitendra V Solanki; Uday C Patel; Dilipkumar C Master; Rafiq Memon; Gregory S Antonarakis; Stylianos E Antonarakis; Swapan K Nath
Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34.
American journal of human genetics 2006;79(3):580-5.
2006: Robert Lyle; Uppala Radhakrishna; Jean-Louis Blouin; Sarantis Gagos; David B Everman; Corinne Gehrig; Celia Delozier-Blanchet; Jitendra V Solanki; Uday C Patel; Swapan K Nath; Fiorella Gurrieri; Giovanni Neri; Charles E Schwartz; Stylianos E Antonarakis
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.
American journal of medical genetics. Part A 2006;140(13):1384-95.
2006: Mohammed Naveed; Mahmoud T Al Ali; Sabita K Murthy; Sarah Al-Hajali; Najib Al Khaja; Samuel Deutsch; Armand Bottani; Stylianos E Antonarakis; Swapan K Nath; Uppala Radhakrishna
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.
American journal of medical genetics. Part A 2006;140(13):1440-6.
2003: Xavier de Mollerat du Jeu; Fiorella Gurrieri; Chad T Morgan; Eugenio Sangiorgi; David B Everman; Paola Gaspari; Jeanne Amiel; Michael Bamshad; Robert Lyle; Jean-Louis Blouin; Judith E Allanson; Bernard Le Marec; Melba Wilson; Nancy E Braverman; Uppala Radhakrishna; Celia Delozier-Blanchet; Albert G Abbott; Vincent Elghouzzi; Stylianos E Antonarakis; Roger E Stevenson; Arnold Munnich; Giovanni Neri; Charles E Schwartz
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
Human molecular genetics 2003;12(16):1959-71.
2003: S Driess; K Freese; Dorothea Bornholdt; A Kobelt; W Kress; Geert R Mortier; Uppala Radhakrishna; Stylianos E Antonarakis; A Rauch; Mohnish Suri; Joke B G M Verheij; H Woerle; Karl-Heinz Grzeschik; M Kalff-Suske
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome.
Human genetics 2003;112(1):103.
2002: Karine Buchet-Poyau; Hamid Mehenni; Uppala Radhakrishna; Stylianos E Antonarakis
Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2.
Cytogenetic and genome research 2002;97(3-4):171-8.
2001: Tamar Ben-Yosef; Marie Wattenhofer; S Riazuddin; Z M Ahmed; Hamish Scott; Jun Kudoh; Kazunori Shibuya; Stylianos E Antonarakis; Batsheva Bonne-Tamir; Uppala Radhakrishna; Sadaf Naz; Zubair M Ahmed; Sheikh Amer Riazuddin; Arti Pandya; Walter E Nance; Edward R Wilcox; Thomas B Friedman; Robert J Morell
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
Journal of medical genetics 2001;38(6):396-400.
2001: Lluis Quintana-Murci; Csilla Krausz; Tatiana Zerjal; S H Sayar; Michael F Hammer; S Qasim Mehdi; Qasim Ayub; Raheel Qamar; Aisha Mohyuddin; Uppala Radhakrishna; Mark A Jobling; Chris Tyler-Smith; Ken McElreavey
Y-chromosome lineages trace diffusion of people and languages in southwestern Asia.
American journal of human genetics 2001;68(2):537-42.
2001: Uppala Radhakrishna; Selahattin Senol; H Herken; Kivilcim Gucuyener; Corinne Gehrig; Jean-Louis Blouin; N A Akarsu; Stylianos E Antonarakis
An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree.
European journal of human genetics : EJHG 2001;9(1):39-44.
2001: Hamish Scott; Jun Kudoh; Marie Wattenhofer; Kazunori Shibuya; A Berry; R Chrast; Michel Guipponi; J Wang; K Kawasaki; Shuichi Asakawa; Shinsei Minoshima; F Younus; S Qasim Mehdi; Uppala Radhakrishna; MP Papasavvas; Corinne Gehrig; Colette Rossier; Michael Korostishevsky; A Gal; Nobuyoshi Shimizu; Batsheva Bonne-Tamir; Stylianos E Antonarakis
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
Nature genetics 2001;27(1):59-63.
2000: Jérôme Lamartine; G Munhoz Essenfelder; Zoha Kibar; I Lanneluc; E Callouet; D Laoudj; Gilles Lemaître; C Hand; Susan J Hayflick; Jonathan (Jon) Zonana; S Antonarakis; Uppala Radhakrishna; D P Kelsell; A L Christianson; Amandine Pitaval; Vazken M Der Kaloustian; C Fraser; Claudine Blanchet-Bardon; Guy Rouleau; Gilles Waksman
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
Nature genetics 2000;26(2):142-4.
2000: Zoha Kibar; Marie-Pierre Dubé; J Powell; C McCuaïg; Susan J Hayflick; Jonathan (Jon) Zonana; A Hovnanian; Uppala Radhakrishna; Stylianos Antonarakis; A Benohanian; A D Sheeran; M L Stephan; R Gosselin; D P Kelsell; A L Christianson; FC Fraser; Vazken M Der Kaloustian; Guy Rouleau
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.
European journal of human genetics : EJHG 2000;8(5):372-80.
2000: Jean-Louis Blouin; Maggie Meeks; Uppala Radhakrishna; AJ Sainsbury; C Gehring; G D Saïl; Lucia Bartoloni; V Dombi; AM O'Rawe; A Walne; E Chung; B A Afzelius; Miguel Armengot; Mark Jorissen; D V Schidlow; L van Maldergem; H Walt; R Mark Gardiner; D Probst; Pierre-André Guerne; Celia Delozier-Blanchet; Stylianos E Antonarakis
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.
European journal of human genetics : EJHG 2000;8(2):109-18.
1999: Uppala Radhakrishna; Dorothea Bornholdt; Hamish Scott; Uday C Patel; Colette Rossier; Hartmut Engel; Armand Bottani; D Chandal; Jean-Louis Blouin; Jitendra V Solanki; Karl-Heinz Grzeschik; Stylianos E Antonarakis
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
American journal of human genetics 1999;65(3):645-55.
1999: Stylianos E Antonarakis; Jean-Louis Blouin; Virginia K Lasseter; Corinne Gehrig; Uppala Radhakrishna; Gerald Nestadt; DE Housman; Haig Kazazian ; Katalin Kalman; George A Gutman; Emmanuelle Fantino; K George Chandy; J Jay Gargus; Ann E Pulver
Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21.
American journal of medical genetics 1999;88(4):348-51.
1999: Logos Curtis; Jean-Louis Blouin; Uppala Radhakrishna; Corinne Gehrig; Virginia K Lasseter; Paula S Wolyniec; Gerald Nestadt; BA Dombroski; Haig Kazazian ; Ann E Pulver; DE Housman; D Bertrand; Stylianos E Antonarakis
No evidence for linkage between schizophrenia and markers at chromosome 15q13-14.
American journal of medical genetics 1999;88(2):109-12.
1998: Jean-Louis Blouin; BA Dombroski; Swapan K Nath; Virginia K Lasseter; Paula S Wolyniec; Gerald Nestadt; Mary H Thornquist; G Ullrich; J McGrath; L Kasch; M Lamacz; M G Thomas; Corinne Gehrig; Uppala Radhakrishna; S E Snyder; K G Balk; Karin Neufeld; Karen L Swartz; N DeMarchi; G N Papadimitriou; Dimitris G Dikeos; C N Stefanis; Aravinda Chakravarti; Barton Childs; DE Housman; Haig Kazazian ; Stylianos E Antonarakis; Ann E Pulver
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21.
Nature genetics 1998;20(1):70-3.
1997: Hamid Mehenni; Jean-Louis Blouin; Uppala Radhakrishna; S S Bhardwaj; K Bhardwaj; V B Dixit; K F Richards; A Bermejo-Fenoll; A S Leal; R C Raval; Stylianos E Antonarakis
Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.
American journal of human genetics 1997;61(6):1327-34.
1997: Uppala Radhakrishna; A Wild; Karl-Heinz Grzeschik; Stylianos Antonarakis
Mutation in GLI3 in postaxial polydactyly type A.
Nature genetics 1997;17(3):269-71.
1997: Uppala Radhakrishna; Jean-Louis Blouin; Hamid Mehenni; T Y Mehta; Frenny J Sheth; FRENNY SHETH; Jitendra V Solanki; Stylianos E Antonarakis
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region.
American journal of medical genetics 1997;71(1):80-6.
1997: Uppala Radhakrishna; Jean-Louis Blouin; Hamid Mehenni; Uday C Patel; M N Patel; Jitendra V Solanki; Stylianos E Antonarakis
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis.
American journal of human genetics 1997;60(3):597-604.
1996: Uppala Radhakrishna; Jean-Louis Blouin; Jitendra V Solanki; G M Dhoriani; Stylianos Antonarakis
An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.
American journal of medical genetics 1996;66(2):209-15.
1996: FRENNY SHETH; Asha S Multani; J J Sheth; Uppala Radhakrishna; V C Shah; N J Chinoy
Incomplete gonadal dysgenesis.
Urologia internationalis 1996;56(1):57-60.
1994: FRENNY SHETH; Uppala Radhakrishna; Asha S Multani; V C Shah; N J Chinoy
A female with isodicentric X chromosome idic (Xq) associated with ovarian dysgenesis.
Indian journal of pediatrics 1994;61(2):189-92.
1993: Uppala Radhakrishna; Asha S Multani; Jitendra V Solanki; V C Shah; N J Chinoy
Polydactyly: a study of a five generation Indian family.
Journal of medical genetics 1993;30(4):296-9.
1992: Asha S Multani; Uppala Radhakrishna; FRENNY SHETH; V C Shah; N J Chinoy
Translocation t(22;22)(p11.1;q11.1) and NOR studies in a female with a history of repeated fetal loss.
Annales de génétique 1992;35(2):105-9.
1991: Uppala Radhakrishna; V C Shah; N J Chinoy
Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X inv (Y) mosaic male.
Jinrui idengaku zasshi. The Japanese journal of human genetics 1991;36(3):251-5.
1991: Uppala Radhakrishna; V C Shah; H N Highland; N J Chinoy; FRENNY SHETH
A triple-X female with long arm deletion of one of the X-chromosomes associated with primary amenorrhoea: 47,XX, +del(X) (q27.3).
Annales de génétique 1991;34(1):40-3.