S. Patil

发表

Identification of Each Human Chromosome with a Modified Giemsa Stain

S. Patil, S. Merrick, H. Lubs, 1971, Science.

Extramedullary leukemia adversely affects hematologic complete remission rate and overall survival in patients with t(8;21)(q22;q22): results from Cancer and Leukemia Group B 8461.

C. Bloomfield, J. Byrd, M. Qumsiyeh, 1997, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

V. Sheffield, R. Swiderski, E. Stone, 1998, Nature Genetics.

Chromosomal abnormalities in a clinic sample of individuals with autistic disorder

J. Piven, T. Wassink, S. Patil, 2001, Psychiatric genetics.

Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype–phenotype correlations

L. Shaffer, S. Patil, C. Jackson-Cook, 2000, Prenatal diagnosis.

Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism

J. Piven, V. Sheffield, T. Wassink, 2007, Journal of autism and developmental disorders.

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

V. Sheffield, E. Stone, S. Patil, 1997, Human molecular genetics.

2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster

V. Sheffield, T. Wassink, S. Patil, 2012, American journal of medical genetics. Part A.

A study of autism using X chromosome DNA probes

S. Patil, J. Murray, R. Crowe, 1988, Biological Psychiatry.

Mosaicism for Deletion 15q11q13 in Sporadic and Familial Cases

S. Patil, T. Donlon, J. Hanson, 1992 .

Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome.

S. Patil, J. Murray, B. Amendt, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development.

C. Richards, S. Patil, A. Taylor, 1999, American journal of medical genetics.

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features

S. Patil, K. Keppler-Noreuil, Susannah Q. Longmuir, 2011, American journal of medical genetics. Part A.

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension

V. Sheffield, S. Patil, Richard J. H. Smith, 2011, American journal of medical genetics. Part A.

Cytogenetic Subtype Cytarabine Intensification in Acute Myeloid Leukemia Varies by Frequency of Prolonged Remission Duration after High-Dose Updated

C. Bloomfield, J. Byrd, S. Patil, 2006 .

Cytogenetics of swarm rat chondrosarcoma.

S. Patil, J. Morcuende, J. Kimura, 2005, The Iowa orthopaedic journal.

Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: A postzygotic error

S. Patil, J. Yankowitz, S. Zeng, 2003, American journal of medical genetics. Part A.

Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.

S. Patil, B. Bjork, J. Murray, 1999, American journal of medical genetics.

Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome.

S. Patil, J. Hanson, J. Bartley, 1983, The Journal of pediatrics.

Clinical Management Issues in Males with Sex Chromosomal Mosaicism and Discordant Phenotype/Sex Chromosomal Patterns

S. Patil, D. V. Van Dyke, J. Hanson, 1991, Clinical pediatrics.

Frequency of prolonged remission duration after high-dose cytarabine intensification in acute myeloid leukemia varies by cytogenetic subtype.

C. Bloomfield, J. Byrd, S. Patil, 1998, Cancer research.

Deletions of different segments of the long arm of chromosome 4.

E. Zackai, J. Opitz, S. Packman, 1981, American journal of medical genetics.

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.

S. Patil, J. Bartley, S. Davenport, 1986, The Journal of pediatrics.

Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461).

C. Bloomfield, J. Byrd, R. Larson, 2002, Blood.

Retinoblastoma Y79 cell line: A study of membrane structures

S. Patil, G. Judisch, E. S. Meek, 1979, Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie.

Infants with Down's syndrome. Use of cytogenetic studies and In Vitro colony assay for granulocyte progenitor to distinguish acute nonlymphocytic leukemia from a transient myeloproliferative disorder

S. Patil, P. D. de Alarcon, S. Shaw, 1987, Cancer.

Loss of alpha‐fetoprotein in rat hepatoma culture cells

S. Patil, U. Kim, P. Cancilla, 1979, International journal of cancer.

Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region.

S. Patil, H. McDermid, J. Murray, 1995, American journal of human genetics.

Significance of chromosome 17ps+ in three generations of a family.

D. Peakman, A. Robinson, S. Patil, 1970, Journal of medical genetics.

Heteromorphisms in Clinical Populations

S. Patil, H. Wyandt, 2004 .

Risk of Preeclampsia in Second‐Trimester Triploid Pregnancies

S. Patil, J. Kuller, R. Strauss, 1997, Obstetrics and gynecology.

Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A

S. Patil, B. Darbro, K. Keppler-Noreuil, 2013, American journal of medical genetics. Part A.

Cytogenetic abnormalities in tumors of patients with von Hippel-Lindau disease.

S. Patil, N. Gurll, M. Waziri, 1989, Cancer genetics and cytogenetics.

Variability in expression of common fragile sites: in search of a new criterion

R. Woolson, S. Patil, T. Burns, 1990, Human Genetics.

Fragile site expression in families with von Hippel-Lindau disease.

S. Patil, T. Burns, M. Waziri, 1989, Cancer genetics and cytogenetics.

leukemia Trisomy 13: a new recurring chromosome abnormality in acute

L. Gordon, S. Patil, D. Arthur, 2011 .

Trisomy 13: A New Recurring Chromosome Abnormality in Acute Leukemia

C. Bloomfield, H. Döhner, J. Testa, 1990 .

Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection

S. Patil, F. Luthardt, H. Wyandt, 1990, Prenatal diagnosis.

First report of mosaic trisomy 12 in a liveborn individual.

S. Patil, J. Hanson, E. Bosch, 1983, American journal of medical genetics.

Trisomy 13: a new recurring chromosome abnormality in acute leukemia.

C. Bloomfield, H. Döhner, J. Testa, 1990, Blood.

Amplification of the chromosome 20q region is associated with expression of HPV-16 E7 in human airway and anogenital epithelial cells.

S. Patil, B. Darbro, F. Gourronc, 2005, Virology.

Beta 1 integrin activation mediates adhesive differences between trisomy 21 and non-trisomic fibroblasts on type VI collagen.

S. Patil, R. Lauer, S. Klewer, 2002, American journal of medical genetics.

Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate.

L. Ashworth, S. Patil, J. Murray, 1998, Genomics.

Accessory chromosomes inPhysalis ixocarpa

S. Patil, 1967, Experientia.

Classification of qh regions in human chromosomes 1, 9, and 16 by C-banding

S. Patil, H. Lubs, 1977, Human Genetics.

Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years.

S. Patil, G. Vance, A. Brothman, 2006, Archives of pathology & laboratory medicine.

Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX gene

S. Patil, J. Di Paola, Q. Qian, 2004, Journal of thrombosis and haemostasis : JTH.

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

D Y Nishimura, V. Sheffield, D. Mackey, 2001, American journal of human genetics.

Localization of the Miller-Dieker critical region is proximal to locus D17S34 (p144D6) in 17p13.3.

C. Schwartz, S. Patil, A. Brown, 1990, Genomics.

Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2.

J Bruce Tomblin, Kirrie Ballard, L. Shriberg, 2009, Journal of speech, language, and hearing research : JSLHR.

Interstitial deletion of the short arm of chromosome 17

S. Patil, J. Bartley, 2004, Human Genetics.

Prognostic significance of the European LeukemiaNet standardized system for reporting cytogenetic and molecular alterations in adults with acute myeloid leukemia.

C. Bloomfield, Yue-zhong Wu, K. Metzeler, 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Concurrent heritable retinoblastoma, pinealoma, and trisomy X.

S. Patil, G. Judisch, 1981, Archives of ophthalmology.

Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism

V. Sheffield, T. Wassink, S. Patil, 2012, Psychiatric genetics.

UvA-DARE ( Digital Academic Repository ) The human achaete-scute homologue 2 ( ASCL 2 , HASH 2 ) maps to chromosome 11 p 15 . 5 , close to IGF 2 and is expressed in extravillus

V. Sheffield, E. Stone, S. Patil, 1997 .

X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq.

S. Patil, N. Carpenter, Y. Qu, 1999, American journal of medical genetics.

Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16.

S. Patil, K. Keppler-Noreuil, A. Kanis, 2001 .

Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16

S. Patil, K. Keppler-Noreuil, A. Kanis, 2001, Developmental medicine and child neurology.

Non-random association of human acrocentric chromosomes

S. Patil, H. Lubs, 2004, Humangenetik.

Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations.

S. Patil, J. Hanson, A. Muilenburg, 1991, American journal of medical genetics.

Partial 8p- syndrome.

S. Patil, J. Hanson, 1980, Journal de genetique humaine.

Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia

S. Raimondi, James R. Anderson, W. Sanger, 2007, Genes, chromosomes & cancer.

A possible association of long Y chromosomes and fetal loss

S. Patil, H. Lubs, 1977, Human Genetics.

The Myth of Nonmongoloid Trisomy G

S. Patil, H. Zellweger, 1981 .

Behavioral management of a long‐term survivor with tetrasomy 18p

S. Patil, K. Keppler-Noreuil, J. Ringdahl, 2006, American journal of medical genetics. Part A.

Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization

N. Heerema, S. Patil, C. Palmer, 1991, Human Genetics.

Linkage analysis of autosomal dominant atrio ventricular canal defects: exclusion of chromosome 21

V. Sheffield, S. Patil, R. Lauer, 1994, Human Genetics.

patients with de novo acute myeloid leukemia : results from Cancer and success , cumulative incidence of relapse , and overall survival in adult Pretreatment cytogenetic abnormalities are predictive of induction

C. Bloomfield, J. Byrd, R. Larson, 2002 .

Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome

S. Patil, M. Tansey, T. Félix, 2007, American journal of medical genetics. Part A.

Association of the X chromosomal region q11 leads to 22 and Klinefelter syndrome.

S. Patil, J. Hanson, J. Bartley, 1981, Clinical genetics.

Prognostic Utility of the European LeukemiaNet (ELN) Genetic-Risk Classification in Adults with De Novo Acute Myeloid Leukemia (AML): A Study of 1,550 Patients (Pts)

C. Bloomfield, Yue-zhong Wu, K. Metzeler, 2011 .

Central review of cytogenetics is necessary for cooperative group correlative and clinical studies of adult acute leukemia: the Cancer and Leukemia Group B experience.

C. Bloomfield, M. Qumsiyeh, K. Mrózek, 2008, International journal of oncology.

Brief report: Search for DNA markers in two autistic males with the fragile X syndrome

S. Patil, R. Crowe, L. Tsai, 1988 .

Two Distinct Subsets of dic(9;12)(p12;p11.2) among Children with B-Cell Precursor Acute Lymphoblastic Leukemia (ALL): PAX5-ETV6 and ETV6-RUNX1 Rearrangements: A Report from the Children’s Oncology Group.

J. Gastier-Foster, N. Heerema, S. Patil, 2007 .

Racial differences in the frequency of Q and C chromosomal heteromorphisms

S. Patil, W. Kimberling, R. Summitt, 1977, Nature.

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.

S. Patil, K. Keppler-Noreuil, J. Welch, 2002 .

New staining methods for chromosomes.

S. Patil, S. Merrick, H. Lubs, 1973, Methods in cell biology.

AluI-resistant chromatin of chromosome 18: classification, frequencies and implications

S. Patil, R. Verma, A. Babu, 2004, Chromosoma.

Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint.

V. Sheffield, E. Stone, S. Patil, 1997, Human molecular genetics.

Association of the X chromosomal region q11→22 and Klinefelter syndrome

S. Patil, J. Hanson, J. Bartley, 1981 .

Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype–phenotype correlations

L. Shaffer, S. Patil, C. Jackson-Cook, 2000, Prenatal diagnosis.

Postleukemic dysmyelopoiesis

J. Armitage, S. Patil, K. Foucar, 1983, American journal of hematology.

Supernumerary minute ring chromosome 14 in a man with primary infertility and left varicocele.

S. Patil, M. Wald, B. C. Stahl, 2007, Fertility and Sterility.

Incontinentia pigmenti: transmission from father to daughter.

E. Stone, S. Patil, E. Siegfried, 1993, Journal of American Academy of Dermatology.

Pilot studies for proficiency testing using fluorescence in situ hybridization with chromosome-specific DNA probes: a College of American Pathologists/American College of Medical Genetics Program.

S. Patil, A. Brothman, M. Butler, 1997, Archives of pathology & laboratory medicine.

Pentasomy X with multiple dislocations.

S. Weinstein, R. Dryer, S. Patil, 1979, American journal of medical genetics.

Sister chromatid exchange analysis in nurses handling antineoplastic drugs.

P. Lachenbruch, S. Patil, M. Corder, 1986, Cancer investigation.