Research Topics
Genomes and Genes
Species | Pawel StankiewiczSummaryAffiliation: Baylor College of Medicine Country: USA Publications
| Collaborators
|
Detail Information
Publications
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disordersPatrícia Bs Celestino-Soper
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Mol Cytogenet 5:17. 2012..The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay...- Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsPaweł Stankiewicz
Dept of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 84:780-91. 2009..These differences reveal the phenotypic consequences of gene alterations in cis... 
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeatsPaweł Stankiewicz
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Hum Mutat 33:165-79. 2012..21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers...- Challenges in clinical interpretation of microduplications detected by array CGH analysisPawel Stankiewicz
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Med Genet A 152:1089-100. 2010..We present the steps for interpreting the clinical significance of microduplications and representative examples of these challenging cases... - Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 casesLina Shao
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 146:2242-51. 2008..Targeted array-CGH with extended coverage (up to 10 Mb) of subtelomeric regions will enhance the detection of subtelomeric imbalances, especially for submicroscopic imbalances... - Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, Texas 77030, USA
J Med Genet 47:332-41. 2010..Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay... - Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Przemyslaw Szafranski
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Hum Mutat 31:840-50. 2010..Nevertheless, if they prove to have a pathological effects, their high frequency could make them a common risk factor for many neurobehavioral disorders... - Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplicationsPengfei Liu
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
Hum Mol Genet 20:1975-88. 2011..Our findings reveal the distribution of different mechanisms for genomic duplication rearrangements at a given locus, and provide insights into aspects of strand exchange events between paralogous sequences in the human genome... - Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive functionSandesh C S Nagamani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Neurogenetics 13:333-9. 2012..Our report supports the notion that FMR1 gene dosage is important for normal neurocognitive function... 
Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplicationsSvetlana A Yatsenko
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 138:175-80. 2005..We present the cytogenetic, molecular, and clinical data of this patient and compare our results with those of patients with dup(17)(p11.2p11.2) syndrome and other patients with SMC(17)...- Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogeneticsSau W Cheung
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
Am J Med Genet A 143:1679-86. 2007..This suggests that aCGH may detect somatic chromosomal mosaicism that would be missed by conventional cytogenetics... - A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletionLuis M Franco
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Eur J Hum Genet 18:258-61. 2010..The phenotype is remarkably opposite to that of Sotos syndrome, suggesting a role for NSD1 in the regulation of somatic growth in humans... - Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysisXin Yan Lu
Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
Pediatrics 122:1310-8. 2008..Our aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array-based comparative genomic hybridization, also known as chromosomal microarray analysis... - Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic featuresKwei Shuai Hwang
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Med Genet A 137:88-93. 2005..5 Mb and duplication of 3.9 Mb, respectively). This case demonstrates the diagnostic utility of combining conventional cytogenetics with molecular chromosome analyses for the identification of subtle chromosome abnormalities... - Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) resultsSung Hae L Kang
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Med Genet A 152:1111-26. 2010..We hypothesize that the increased use of aCGH in the clinic will demonstrate that IT occurs more frequently than previously considered but can identify genomic rearrangements with unclear clinical significance... - Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing lossSandesh Chakravarthy Sreenath Nagamani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Eur J Hum Genet 17:573-81. 2009..2-q25.3 region was deleted in all four cases. We hypothesize that a subset of genes in the commonly deleted region are dosage sensitive and that haploinsufficieny of these genes impairs normal development of the brain and hearing... - Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorderAyelet Erez
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Neurogenetics 10:363-9. 2009.... - Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal casesXinyan Lu
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
PLoS ONE 2:e327. 2007..We report our experience with the clinical implementation of this high resolution human genome analysis, referred to as Chromosomal Microarray Analysis (CMA)... - Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher diseaseJennifer A Lee
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
Hum Mol Genet 15:2250-65. 2006.... - Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arraysWeimin Bi
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Prenat Diagn 32:10-20. 2012..Our objective is to develop a reliable array comparative genomic hybridization (CGH) platform to detect genomic imbalances as small as ~1Mb ina single cell... - Phenotypic manifestations of copy number variation in chromosome 16p13.11Sandesh C Sreenath Nagamani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Eur J Hum Genet 19:280-6. 2011..Our findings expand the repertoire of clinical features observed in patients with CNV in 16p13.11 and strengthen the hypothesis that this is a dosage sensitive region with clinical relevance... - Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12Sandesh Chakravarthy Sreenath Nagamani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Eur J Hum Genet 18:278-84. 2010..Our findings expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12... - Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeLorraine Potocki
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 80:633-49. 2007..Our results refine the critical region for Potocki-Lupski syndrome, provide information to assist in clinical diagnosis and management, and lend further support for the concept that genomic architecture incites genomic instability... - Development and validation of a CGH microarray for clinical cytogenetic diagnosisSau W Cheung
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Genet Med 7:422-32. 2005..Limitations of CMA include the inability to detect both balanced chromosome changes and low levels of mosaicism... - Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangementZhishuo Ou
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 146:2480-9. 2008..Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6, or OTX2 may be responsible for the BOR and OAVS-like features in this family... - A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypesMarwan Shinawi
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Nat Genet 41:1269-71. 2009..3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome... - Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridizationTrilochan Sahoo
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Genet Med 8:719-27. 2006..Use of array-CGH should increase the detection of abnormalities relative to the risk, and is an option for an enhanced level of screening for chromosomal abnormalities in high risk pregnancies... - Incidental copy-number variants identified by routine genome testing in a clinical populationPhilip M Boone
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Genet Med 15:45-54. 2013..Mutational load of susceptibility variants has not been studied on a genomic scale in a clinical population, nor has the potential to identify these mutations as incidental findings during clinical testing been systematically ascertained... - Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44Sandesh C Sreenath Nagamani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Eur J Hum Genet 20:176-9. 2012..Our results rule out the involvement of AKT3, and implicate CEP170 and/or ZNF238 as novel genes causative for CCA in patients with a terminal 1q deletion... - Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNicola Brunetti-Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Nat Genet 40:1466-71. 2008..These phenotypes are subject to incomplete penetrance and variable expressivity... - Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Hum Mutat 31:1326-42. 2010..In summary, we demonstrate the utility of a custom-designed, exon-targeted oligonucleotide array to detect intragenic copy-number changes in patients with various clinical phenotypes... - Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairmentNicola Brunetti-Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Eur J Hum Genet 19:102-7. 2011.... - TGFBR2 deletion in a 20-month-old female with developmental delay and microcephalyIan M Campbell
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 155:1442-7. 2011..Moreover, we propose that somatic mosaicism below the detection threshold of FISH analysis in asymptomatic parents of children with genomic disorders may be more common than previously recognized... - HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndromeAmarilis Sanchez-Valle
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 152:2854-60. 2010.... - Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switchingClaudia M B Carvalho
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 18:2188-203. 2009.... - Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mappingAyman W El-Hattab
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm R809, Houston, TX 77030, USA
Hum Genet 126:589-602. 2009.... - Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patientsJoanna Pietrzak
Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01 211 Warszawa, Poland
J Appl Genet 48:167-75. 2007..This study confirms the usefulness of multicolor FISH combined with whole-genome arrays for comprehensive analyses of marker chromosomes... - Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalitiesSeema R Lalani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Eur J Hum Genet 21:173-81. 2013..Our findings implicate rare variants such as 16q24.3 loss and 2q31.3-q32.1 loss, and delineate regions within previously reported structural variants known to cause CVMs... - SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathwayGabriel A Bien-Willner
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 16:1143-56. 2007.... - Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardationPawel Stankiewicz
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Curr Opin Genet Dev 17:182-92. 2007..Commercially available genome-wide microarrays with >300,000 synthesized oligonucleotide probes enable higher resolution and sensitivity and will probably replace the BAC/PAC arrays in clinical laboratories... - Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathyJames R Lupski
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
N Engl J Med 362:1181-91. 2010..We therefore aimed to assess the usefulness of human whole-genome sequencing for genetic diagnosis in a patient with Charcot-Marie-Tooth disease... - Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2Melissa B Ramocki
Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 155:1574-80. 2011..In addition, an individual with a complex rearrangement of chromosome 22q13.3 and RES was identified, suggesting the presence of a dosage-sensitive gene that may contribute to RES in this region... - Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1)Marta Smyk
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Hum Genet 122:63-70. 2007..We propose that this genomic region and by extension those surrounding the dosage sensitive SRY, SOX9, SF1, and WNT-4 genes, should be examined for copy-number variation in patients with sex reversal... - Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletionsChristian P Schaaf
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Eur J Hum Genet 20:1240-7. 2012..The more C-terminal deletions, including those affecting the β isoform of neurexin 1, manifested increased head size and a high frequency of seizure disorder (88%) when compared with N-terminal deletions of NRXN1... - Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangementOleg A Shchelochkov
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Mol Cytogenet 1:16. 2008..The cell line carrying the deletion of Xp could have then stabilized through self-circularization and formation of the ring X chromosome... - Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndromeSilke Schlaubitz
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 143:1071-81. 2007..This suggests that the locus 9q33-9q34 can be excluded for GPS and that the presented case is unique in its combination of GPS and NPS features caused by a microdeletion associated with loss of function of LMX1B and NR5A1... - Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1AIan M Campbell
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Genet Med 14:868-76. 2012..A number of genes in the 9q34.11 region may be haploinsufficient. However, studies analyzing genotype-phenotype correlations of deletions encompassing multiple dosage-sensitive genes in the region are lacking... - Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Avinash V Dharmadhikari
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room R809, Houston, TX 77030, USA
Hum Mol Genet 21:3345-55. 2012.... - Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo eventsWeimin Bi
MGL Cytogenetics Laboratory, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
J Med Genet 49:681-8. 2012..The reciprocal duplication is associated with an extremely variable phenotype, ranging from apparently normal to learning disabilities and multiple congenital anomalies... - Small marker chromosomes in two patients with segmental aneusomy for proximal 17pChristine J Shaw
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, TX 77030, Houston, USA
Hum Genet 115:1-7. 2004..2 and to elucidate genotype-phenotype correlations... - Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizuresM Bartnik
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Clin Genet 80:191-5. 2011.... - Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disordersSandesh C S Nagamani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Eur J Hum Genet 21:343-6. 2013..More importantly, it demonstrates the utility of targeted exon array as a highly sensitive clinical diagnostic tool for the detection of small genomic rearrangements in the clinically relevant regions of the human genome... - Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHEPatricia B S Celestino-Soper
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 20:4360-70. 2011..gov/geo/, date last accessed on 30 August 2011). Genboree accession: http://genboree.org/java-bin/gbrowser.jsp?refSeqId=1868&entryPointId=chr17&from=53496072&to=53694382&isPublic=yes, date last accessed on 30 August 2011... - Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeatsNaohiro Kurotaki
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Hum Mol Genet 14:535-42. 2005..5 kb unequal crossover hotspot region in six out of nine analyzed Sos patients with the common deletion. Our data are consistent with an NAHR mechanism for generation of the Sos common deletion... - Isolation and characterization of mouse-human microcell hybrid cell clones permissive for infectious HIV particle releaseAyse K Coskun
Baylor College of Medicine, Department of Molecular Virology and Microbiology, One Baylor Plaza, Houston, TX 77030, USA
Virology 362:283-93. 2007..These permissive mouse-human MCHs and their corresponding non-permissive revertants may prove useful for mechanistic studies and also for identifying the responsible gene(s) or factor(s) involved in the production of HIV... - Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesJames R Lupski
Department of Molecular and Human Genetics, Baylor College of Medicine, and at the Texas Children s Hospital, Houston, Texas, United States of America
PLoS Genet 1:e49. 2005.... - Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletionsAyman W El-Hattab
Division of Medical Genetics, Department of Child Health, University of Missouri Health Care, Columbia, Missouri, USA
J Med Genet 48:840-50. 2011..X linked intellectual disability (XLID) is common, with an estimated prevalence of 1/1000. The expanded use of array comparative genomic hybridisation (CGH) has led to the identification of several XLID-associated copy-number variants... - Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorderPrzemyslaw Szafranski
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genome Res 23:23-33. 2013..Perturbation of lncRNA-mediated chromatin interactions may, in general, be responsible for position effect phenomena and potentially cause many disorders of human development... - Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasiaGopalrao V N Velagaleti
Department of Pathology, University of Texas Medical Branch, Galveston, TX, USA
Am J Hum Genet 76:652-62. 2005..1 Mb upstream and 1.3 Mb downstream of it, respectively. The potential molecular mechanism responsible for the position effect is discussed... - Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemiaMargaret J Wat
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
J Med Genet 47:777-81. 2010..Congenital diaphragmatic hernia (CDH) can occur in isolation or in association with other abnormalities. We hypothesised that some cases of non-isolated CDH are caused by novel genomic disorders... - A girl with duplication 17p10-p12 associated with a dicentric chromosomeChristine J Shaw
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 124:173-8. 2004..We compare the clinical features of our patient to those of individuals with partial trisomy of proximal 17p to further delineate the genotype-phenotype correlation associated with segmental duplication of this chromosomal region... - A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in humanPartha Sen
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
Eur J Hum Genet 21:474-7. 2013..Their single healthy sibling has a different chromosome 16 haplotype inherited from the maternal grandmother. The results are consistent with paternal imprinting of FOXF1 in human... - Head bobber: an insertional mutation causes inner ear defects, hyperactive circling, and deafnessGiuseppina Somma
Huffington Center on Aging, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
J Assoc Res Otolaryngol 13:335-49. 2012..We propose that genes critical for inner ear patterning and differentiation are lost at the head bobber locus and are candidate genes for human deafness and vestibular disorders... - Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, TexasAna M Avalos Mishaan
Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
Pediatr Infect Dis J 24:201-6. 2005..CONCLUSIONS: One CA-MRSA clone, TCH clone A, has become the predominant cause of CA S. aureus infections among children in the Houston area. It causes a wide spectrum of diseases, including complicated pneumonia...